Canonical Allele Identifier: PA316942
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 206647
ClinVar RCV Id: RCV000188720 RCV000661982 RCV000766627 RCV002345676
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000301.1:p.Arg179Cys
CA316940
NM_000310.4:c.535C>T