Canonical Allele Identifier: PA2827714800
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1499583
ClinVar RCV Id: RCV002012875
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340125.1:p.Thr420Ser
CA375311481
NM_001353196.2:c.1258A>T
CA375311492
NM_001353196.2:c.1259C>G