Canonical Allele Identifier: PA2828103390
Gene: PPT1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

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