Canonical Allele Identifier: PA2827713139
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1003504
ClinVar RCV Id: RCV001300065

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340122.2:p.Leu498Val
CA375311949
NM_001353193.2:c.1492C>G