Canonical Allele Identifier: PA2828537939
Gene: POMT1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361622.1:p.Trp347Arg
CA5293686
NM_001374693.1:c.1039T>C
CA375311801
NM_001374693.1:c.1039T>A