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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:
CA2507498181
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.9888353dup , CM000686.2:g.9888353dup
GRCh38
NC_000024.9:g.9725962dup , CM000686.1:g.9725962dup
GRCh37
NC_000024.8:g.10335962dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'