Canonical Allele Identifier: PA2828535892
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_001361618.1:p.Glu486Ala
CA375312101
NM_001374689.1:c.1457A>C