Canonical Allele Identifier: PA102811
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 554968
ClinVar RCV Id: RCV000670699
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Leu380Phe
CA401778136
NM_000271.5:c.1138C>T