Canonical Allele Identifier: PA2825805235
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 985638
ClinVar RCV Id: RCV001266645

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136076.1:p.Gly40Arg
CA339850663
NM_001142604.2:c.118G>A
CA339850664
NM_001142604.2:c.118G>C