Canonical Allele Identifier: PA2573166489
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1496181
ClinVar RCV Id: RCV001991749
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Leu104Ile
CA401785875
NM_000271.5:c.310C>A