Canonical Allele Identifier: PA2829905919
Gene: VPS53 HGNC NCBI

Linked Data

ClinVar Variation Id: 444390
ClinVar RCV Id: RCV000513090 RCV002275066
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060759.2:p.Pro166Leu
CA286669285
NM_018289.4:c.497C>T