Canonical Allele Identifier: PA2827165498
Gene: HPS1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001309411.1:p.Glu546Lys
CA5638803
NM_001322482.2:c.1636G>A