Canonical Allele Identifier: PA2827467600
Gene: HPS4 HGNC NCBI
ClinVar RCV:
RCV000020872
ClinVar Variation:
21678
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336830.1:p.His154Arg
CA342358
NM_001349901.1:c.461A>G