Canonical Allele Identifier: PA2573166499
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1430413
ClinVar RCV Id: RCV001952439
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Val130Ile
CA8913751
NM_000271.5:c.388G>A
CA2573155243
NM_000271.5:c.387_388delinsCA