Canonical Allele Identifier: PA2827713155
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1500135
ClinVar RCV Id: RCV002042509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340122.2:p.Glu512Ala
CA375312101
NM_001353193.2:c.1535A>C