Canonical Allele Identifier: PA2827713726
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 972029
ClinVar RCV Id: RCV001247957 RCV002570364
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340123.1:p.Gly428Arg
CA5293696
NM_001353194.2:c.1282G>A
CA375312008
NM_001353194.2:c.1282G>C