Canonical Allele Identifier: PA102079
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 863837

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Arg389Cys
CA297069514
NM_000271.5:c.1165C>T