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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:
CA2801650192
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.54835360del , CM000676.2:g.54835360del
GRCh38
NC_000014.8:g.55302078del , CM000676.1:g.55302078del
GRCh37
NC_000014.7:g.54371828del
NCBI36
Search 100 bp 5'
Search 100 bp 3'