Canonical Allele Identifier: PA915979810
Gene: PPT1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136076.1:p.His84Arg
CA263532
NM_001142604.2:c.251A>G