Canonical Allele Identifier: PA103021
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419321

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Pro433Leu
CA16620669
NM_000271.5:c.1298C>T