Canonical Allele Identifier: PA297006
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 181452
ClinVar RCV Id: RCV000317403 RCV000870814 RCV001579491
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Gly911Ser
CA297005
NM_000271.5:c.2731G>A