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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA573962361
Gene: SFRP4
HGNC
NCBI
Linked Data
dbSNP Id:
rs145690954
gnomAD v2:
7-37991830-G-GTTCATTCA
gnomAD v3:
7-37952228-G-GTTCATTCA
gnomAD v4:
7-37952228-G-GTTCATTCA
MyVariant Identifiers:
chr7:g.37991834_37991835insTTCATTCA (hg19)
chr7:g.37991830_37991831insTTCATTCA (hg19)
chr7:g.37952232_37952233insTTCATTCA (hg38)
chr7:g.37952228_37952229insTTCATTCA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.37952245_37952252dup , CM000669.2:g.37952245_37952252dup
GRCh38
NC_000007.13:g.37991847_37991854dup , CM000669.1:g.37991847_37991854dup
GRCh37
NC_000007.12:g.37958372_37958379dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000447200.2:c.-52-25462_-52-25455dup
ENSP00000402262.2:n.-52-25462_-52-25455du...
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