Canonical Allele Identifier: PA2573166594
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1444591
ClinVar RCV Id: RCV001992395
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Asp416Glu
CA401777436
NM_000271.5:c.1248C>G
CA401777438
NM_000271.5:c.1248C>A