Canonical Allele Identifier: PA2827716696
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448112
ClinVar RCV Id: RCV000517193 RCV002525068
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340128.2:p.Ala515Thr
CA5293862
NM_001353199.2:c.1543G>A