Canonical Allele Identifier: PA2827163180
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1306248

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001309407.1:p.Asp254Asn
CA5639303
NM_001322478.1:c.760G>A