Canonical Allele Identifier: PA2580109988
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2201401
ClinVar RCV Id: RCV002654971
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Ala278Val
CA8913631
NM_000271.5:c.833C>T