Canonical Allele Identifier: PA2827715407
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1374758
ClinVar RCV Id: RCV001900686

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340126.2:p.Ser425Arg
CA375311694
NM_001353197.2:c.1273A>C
CA375311709
NM_001353197.2:c.1275C>A
CA375311712
NM_001353197.2:c.1275C>G