Canonical Allele Identifier: PA645464313
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379909
ClinVar RCV Id: RCV000420750 RCV001341505
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000301.1:p.Tyr247Cys
CA789571
NM_000310.4:c.740A>G