Canonical Allele Identifier: PA916043947
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56179
ClinVar RCV Id: RCV000049590 RCV003317067
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350624.1:p.Gly42Glu
CA263473
NM_001363695.2:c.125G>A