Canonical Allele Identifier: PA2741813914
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2754911
ClinVar RCV Id: RCV003500103
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Asn135His
CA401785139
NM_000271.5:c.403A>C