Canonical Allele Identifier: PA2828536555
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288003
ClinVar RCV Id: RCV000726099 RCV001070816 RCV002518009
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361619.1:p.Arg540His
CA5293867
NM_001374690.1:c.1619G>A