Canonical Allele Identifier: PA2573254042
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1499583
ClinVar RCV Id: RCV002012875

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009102.4:p.Thr472Ser
CA375311481
NM_007171.4:c.1414A>T
CA375311492
NM_007171.4:c.1415C>G