Canonical Allele Identifier: PA2827714918
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3242
ClinVar RCV Id: RCV002286388 RCV002512704
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340125.1:p.Trp530Cys
CA116106
NM_001353196.2:c.1590G>C
CA375313220
NM_001353196.2:c.1590G>T