Canonical Allele Identifier: PA658804750
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 497771
ClinVar RCV Id: RCV000594495 RCV000871088 RCV001724071 RCV003925773
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Gly149Arg
CA8913743
NM_000271.5:c.445G>A
CA401784837
NM_000271.5:c.445G>C