Canonical Allele Identifier: PA2828103390
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56206
ClinVar RCV Id: RCV000049617

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350624.1:p.His187Arg
CA263532
NM_001363695.2:c.560A>G