Canonical Allele Identifier: PA2827713147
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 972029
ClinVar RCV Id: RCV001247957 RCV002570364
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340122.2:p.Gly504Arg
CA5293696
NM_001353193.2:c.1510G>A
CA375312008
NM_001353193.2:c.1510G>C