Canonical Allele Identifier: PA2499230643
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1210440
ClinVar RCV Id: RCV001580745
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Val148Leu
CA8913744
NM_000271.5:c.442G>C