Canonical Allele Identifier: PA2825805521
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1010510
ClinVar RCV Id: RCV001308150

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136076.1:p.Phe201Leu
CA339845305
NM_001142604.2:c.603C>G
CA339845306
NM_001142604.2:c.603C>A
CA339845311
NM_001142604.2:c.601T>C