Canonical Allele Identifier: PA2741813957
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2506393
ClinVar RCV Id: RCV003234979
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Ser1082Arg
CA401791615
NM_000271.5:c.3246T>G
CA401791616
NM_000271.5:c.3246T>A
CA401791633
NM_000271.5:c.3244A>C