Canonical Allele Identifier: PA2741813912
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2571008
ClinVar RCV Id: RCV003312409
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Asn103Lys
CA401785877
NM_000271.5:c.309C>G
CA401785879
NM_000271.5:c.309C>A