Canonical Allele Identifier: PA2825805411
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198413
ClinVar RCV Id: RCV000179745 RCV000670818
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136076.1:p.Ser138Leu
CA247056
NM_001142604.2:c.413C>T