Canonical Allele Identifier: PA2573166596
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1358187
ClinVar RCV Id: RCV001878565
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Ile419Met
CA401777379
NM_000271.5:c.1257T>G