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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:
CA157153142
Gene: SFRP4
HGNC
NCBI
Linked Data
dbSNP Id:
rs145690954
gnomAD v2:
7-37991830-GTTCA-G
gnomAD v3:
7-37952228-GTTCA-G
gnomAD v4:
7-37952228-GTTCA-G
MyVariant Identifiers:
chr7:g.37991831_37991834del (hg19)
chr7:g.37952229_37952232del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.37952249_37952252del , CM000669.2:g.37952249_37952252del
GRCh38
NC_000007.13:g.37991851_37991854del , CM000669.1:g.37991851_37991854del
GRCh37
NC_000007.12:g.37958376_37958379del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000447200.2:c.-52-25458_-52-25455del
ENSP00000402262.2:n.-52-25458_-52-25455de...
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