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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:
CA2355978695
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.23661632_23661633delinsCA , CM000682.2:g.23661632_23661633delinsCA
GRCh38
NC_000020.10:g.23642269_23642270delinsCA , CM000682.1:g.23642269_23642270delinsCA
GRCh37
NC_000020.9:g.23590269_23590270delinsCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001754712.1:n.262_263delinsCA
Search 100 bp 5'
Search 100 bp 3'