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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:
CA2355978796
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.23661848_23661849delinsCA , CM000682.2:g.23661848_23661849delinsCA
GRCh38
NC_000020.10:g.23642485_23642486delinsCA , CM000682.1:g.23642485_23642486delinsCA
GRCh37
NC_000020.9:g.23590485_23590486delinsCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001754712.1:n.280+198_280+199delinsCA
Search 100 bp 5'
Search 100 bp 3'