Canonical Allele Identifier: PA2580109899
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1714589
ClinVar RCV Id: RCV002295685
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Thr112Ile
CA401785662
NM_000271.5:c.335C>T