Canonical Allele Identifier: PA2828535539
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_001361618.1:p.Gly11Arg
CA116108
NM_001374689.1:c.31G>A
CA375305697
NM_001374689.1:c.31G>C