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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:
CA158302420
Gene:
Linked Data
dbSNP Id:
rs773352082
gnomAD v2:
7-46072603-A-AG
gnomAD v3:
7-46033005-A-AG
gnomAD v4:
7-46033005-A-AG
MyVariant Identifiers:
chr7:g.46072603_46072604insG (hg19)
chr7:g.46033005_46033006insG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.46033008dup , CM000669.2:g.46033008dup
GRCh38
NC_000007.13:g.46072606dup , CM000669.1:g.46072606dup
GRCh37
NC_000007.12:g.46039131dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745203.1:n.1270-3610dup
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