Canonical Allele Identifier: PA2827713929
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 290138
ClinVar RCV Id: RCV000357677
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340123.1:p.Pro642Arg
CA10606658
NM_001353194.2:c.1925C>G