Canonical Allele Identifier: PA2827713125
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2443410
ClinVar RCV Id: RCV003152017
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340122.2:p.Gly480Arg
CA200795122
NM_001353193.2:c.1438G>C
CA375311714
NM_001353193.2:c.1438G>A