Canonical Allele Identifier: PA102157
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 554973

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Arg789Cys
CA401793596
NM_000271.5:c.2365C>T