Canonical Allele Identifier: PA1139741712
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 985638
ClinVar RCV Id: RCV001266645

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350624.1:p.Gly40Arg
CA339850663
NM_001363695.2:c.118G>A
CA339850664
NM_001363695.2:c.118G>C