Canonical Allele Identifier: PA2573200965
Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1370325
ClinVar RCV Id: RCV001870972 RCV003264157
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336830.1:p.Arg491His
CA10163326
NM_001349901.1:c.1472G>A