Canonical Allele Identifier: PA102569
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 555407
ClinVar RCV Id: RCV000671227
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Glu612Asp
CA401772946
NM_000271.5:c.1836A>T
CA401772950
NM_000271.5:c.1836A>C