Canonical Allele Identifier: PA101991
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 553090
ClinVar RCV Id: RCV000668466
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Ala388Pro
CA401777967
NM_000271.5:c.1162G>C