Canonical Allele Identifier: PA2828103466
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2501065
ClinVar RCV Id: RCV003226662
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350624.1:p.Gly282_Ter283insLeuAsnProTyrSerSerGln
CA339845289
NM_001363695.2:c.848G>T