Canonical Allele Identifier: PA2580110046
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2083401
ClinVar RCV Id: RCV003002503
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Asp416Gly
CA8913510
NM_000271.5:c.1247A>G