Canonical Allele Identifier: PA2828103385
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56204
ClinVar RCV Id: RCV000049615 RCV000731854 RCV003155060 RCV002345360
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350624.1:p.Glu184Lys
CA263526
NM_001363695.2:c.550G>A