Canonical Allele Identifier: PA103240
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449504
ClinVar RCV Id: RCV000522597 RCV000674009 RCV003226316
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Thr137Met
CA8913749
NM_000271.5:c.410C>T