Canonical Allele Identifier: PA297013
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 181456
ClinVar RCV Id: RCV001251128 RCV002223799
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Ala926Val
CA297012
NM_000271.5:c.2777C>T