Canonical Allele Identifier: PA2827713129
Gene: POMT1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340122.2:p.Trp486Arg
CA5293686
NM_001353193.2:c.1456T>C
CA375311801
NM_001353193.2:c.1456T>A