Canonical Allele Identifier: PA913194843
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 597913
ClinVar RCV Id: RCV000734172 RCV002535371
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Ala521Thr
CA8913426
NM_000271.5:c.1561G>A