Canonical Allele Identifier: PA658654244
Gene: VPS53 HGNC NCBI

Linked Data

ClinVar Variation Id: 444390
ClinVar RCV Id: RCV000513090 RCV002275066
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121631.1:p.Pro195Leu
CA286669285
NM_001128159.3:c.584C>T