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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:
CA1286886007
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.127431759_127431761delinsCCA , CM000664.2:g.127431759_127431761delinsCCA
GRCh38
NC_000002.11:g.128189335_128189337delinsCCA , CM000664.1:g.128189335_128189337delinsCCA
GRCh37
NC_000002.10:g.127905805_127905807delinsCCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_923313.1:n.1237_1239delinsTGG
XR_001739705.1:n.3607-3497_3607-3495delinsTGG
XR_923313.2:n.3948_3950delinsTGG
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