Canonical Allele Identifier: PA2827713478
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285812
ClinVar RCV Id: RCV000712827 RCV000540929 RCV002519193 RCV004543069
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340123.1:p.Ala142Thr
CA5293329
NM_001353194.2:c.424G>A