Canonical Allele Identifier: PA2580110040
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1989779
ClinVar RCV Id: RCV002786685
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Gln397Arg
CA8913522
NM_000271.5:c.1190A>G