Canonical Allele Identifier: PA2825078770
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2151699
ClinVar RCV Id: RCV003061472
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000186.2:p.Arg230Cys
CA5639318
NM_000195.5:c.688C>T