Canonical Allele Identifier: PA913194846
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 594293
ClinVar RCV Id: RCV000729551
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Ser527Gly
CA401774875
NM_000271.5:c.1579A>G