Canonical Allele Identifier: PA111300
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8900
ClinVar RCV Id: RCV000009451 RCV000188709 RCV001723555 RCV002426497 RCV003407309
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000301.1:p.Thr75Pro
CA254577
NM_000310.4:c.223A>C