Canonical Allele Identifier: PA2499230663
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1026548
ClinVar RCV Id: RCV001327013
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Met1001Val
CA401792165
NM_000271.5:c.3001A>G