Canonical Allele Identifier: PA915979791
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188857
ClinVar RCV Id: RCV000169209 RCV002259317 RCV001723740 RCV002345567
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136076.1:p.Val78Met
CA274047
NM_001142604.2:c.232G>A