Canonical Allele Identifier: PA102107
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 499939

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Arg404Trp
CA401777639
NM_000271.5:c.1210C>T