Canonical Allele Identifier: PA2573166601
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1678626
ClinVar RCV Id: RCV002225227
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Pro430Arg
CA401777198
NM_000271.5:c.1289C>G