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: PA2827653725

Gene: HLCS HGNC NCBI

Linked Data

ClinVar Variation Id: 1908

ClinVar RCV Id: RCV000001985 RCV003328550

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339446.1:p.Asp571Asn	CA278019 NM_001352517.1:c.1711G>A