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: PA2827653960

Gene: HLCS HGNC NCBI

Linked Data

ClinVar Variation Id: 972289

ClinVar RCV Id: RCV001248282

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339447.1:p.Arg183Trp	CA10020659 NM_001352518.2:c.547C>T