Canonical Allele Identifier: PA2573166648
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1499570
ClinVar RCV Id: RCV002010755
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Ser527Arg
CA8913420
NM_000271.5:c.1581T>A
CA401774869
NM_000271.5:c.1581T>G
CA401774874
NM_000271.5:c.1579A>C