Canonical Allele Identifier: PA2827713244
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 260143
ClinVar RCV Id: RCV000246533 RCV000332912 RCV000687622 RCV000725940 RCV002518638
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340122.2:p.Val598Ala
CA5293806
NM_001353193.2:c.1793T>C