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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:
CA2794968446
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.28045315del , CM000674.2:g.28045315del
GRCh38
NC_000012.11:g.28198248del , CM000674.1:g.28198248del
GRCh37
NC_000012.10:g.28089515del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_931460.1:n.154-6355del
Search 100 bp 5'
Search 100 bp 3'