Canonical Allele Identifier: PA2573166869
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1358191
ClinVar RCV Id: RCV001864018
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Val1141Gly
CA297079167
NM_000271.5:c.3422T>G