Canonical Allele Identifier: PA2827714163
Gene: POMT1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340124.1:p.Gly259Arg
CA5293544
NM_001353195.2:c.775G>A
CA375309062
NM_001353195.2:c.775G>C