Canonical Allele Identifier: PA2825805433
Gene: PPT1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136076.1:p.Gly147Val
CA263548
NM_001142604.2:c.440G>T