Allele Registry

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.

Canonical Allele Identifier: PA2827653499

Gene: HLCS HGNC NCBI

Linked Data

ClinVar Variation Id: 898132

ClinVar RCV Id: RCV001141810

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339446.1:p.Thr251Ala	CA409912382 NM_001352517.1:c.751A>G