Canonical Allele Identifier: PA2829964940
Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2178438
ClinVar RCV Id: RCV002595536 RCV003274255
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_071364.4:p.Arg473Cys
CA10163327
NM_022081.5:c.1417C>T