Canonical Allele Identifier: PA2573166814
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1510885
ClinVar RCV Id: RCV002043185
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Arg997Ser
CA401792186
NM_000271.5:c.2991A>C
CA401792187
NM_000271.5:c.2991A>T