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: PA916030273

Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 163673

ClinVar RCV Id: RCV000150821 RCV000371919 RCV001519476 RCV001701619

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336830.1:p.Leu461Val	CA176313 NM_001349901.1:c.1381C>G