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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:
CA2532565563
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12881496_12881497dup , CM000686.2:g.12881496_12881497dup
GRCh38
NC_000024.9:g.14993411_14993412dup , CM000686.1:g.14993411_14993412dup
GRCh37
NC_000024.8:g.13502805_13502806dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'