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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:
CA1462694388
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.62558471_62558474delinsTATG , CM000666.2:g.62558471_62558474delinsTATG
GRCh38
NC_000004.11:g.63424189_63424192delinsTATG , CM000666.1:g.63424189_63424192delinsTATG
GRCh37
NC_000004.10:g.63106784_63106787delinsTATG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_938814.1:n.161-5373_161-5370delinsTATG
Search 100 bp 5'
Search 100 bp 3'