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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:
CA1462694383
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.62558465_62558466delinsGT , CM000666.2:g.62558465_62558466delinsGT
GRCh38
NC_000004.11:g.63424183_63424184delinsGT , CM000666.1:g.63424183_63424184delinsGT
GRCh37
NC_000004.10:g.63106778_63106779delinsGT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_938814.1:n.161-5379_161-5378delinsGT
Search 100 bp 5'
Search 100 bp 3'