Canonical Allele Identifier: PA1139741709
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 848465
ClinVar RCV Id: RCV001052232
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350624.1:p.Asp28Glu
CA339850729
NM_001363695.2:c.84C>A
CA339850730
NM_001363695.2:c.84C>G