Canonical Allele Identifier: PA2830413460
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1306248
ClinVar RCV Id: RCV001767201 RCV002496092
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_872577.1:p.Asp254Asn
CA5639303
NM_182639.4:c.760G>A