Canonical Allele Identifier: PA2580109956
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2195199
ClinVar RCV Id: RCV002628491
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Val246Ile
CA8913656
NM_000271.5:c.736G>A