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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
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Canonical Allele Identifier:
CA1700819982
Gene: SFRP4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1786422328
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.37952247_37952248insGTTCATTC , CM000669.2:g.37952247_37952248insGTTCATTC
GRCh38
NC_000007.13:g.37991849_37991850insGTTCATTC , CM000669.1:g.37991849_37991850insGTTCATTC
GRCh37
NC_000007.12:g.37958374_37958375insGTTCATTC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000447200.2:c.-52-25467_-52-25466insCGAATGAA
ENSP00000402262.2:n.-52-25467_-52-25466in...
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