Canonical Allele Identifier: PA103000
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21142
ClinVar RCV Id: RCV000020234 RCV000078486 RCV000675580 RCV003638614
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Pro237Ser
CA145972
NM_000271.5:c.709C>T