Canonical Allele Identifier: PA658825191
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 556002
ClinVar RCV Id: RCV000671937 RCV000729488 RCV002532118 RCV003403563
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Ala1187Val
CA8912730
NM_000271.5:c.3560C>T