Canonical Allele Identifier: PA2827717030
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1374758
ClinVar RCV Id: RCV001900686

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340129.1:p.Ser305Arg
CA375311694
NM_001353200.2:c.913A>C
CA375311709
NM_001353200.2:c.915C>A
CA375311712
NM_001353200.2:c.915C>G