Canonical Allele Identifier: PA1139681747
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 891970
ClinVar RCV Id: RCV001127620
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Ala558Ser
CA297062945
NM_000271.5:c.1672G>T