Canonical Allele Identifier: PA2825815167
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3244
ClinVar RCV Id: RCV002286389 RCV003460408 RCV002512705
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Gly65Arg
CA116108
NM_001136113.2:c.193G>A
CA375305697
NM_001136113.2:c.193G>C