Canonical Allele Identifier: PA2827713681
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2228099
ClinVar RCV Id: RCV002707432
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340123.1:p.Trp382Arg
CA375311240
NM_001353194.2:c.1144T>A
CA375311241
NM_001353194.2:c.1144T>C