Canonical Allele Identifier: PA2828103462
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1010510
ClinVar RCV Id: RCV001308150

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350624.1:p.Phe280Leu
CA339845305
NM_001363695.2:c.840C>G
CA339845306
NM_001363695.2:c.840C>A
CA339845311
NM_001363695.2:c.838T>C