Canonical Allele Identifier: PA2827716656
Gene: POMT1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340128.2:p.Gln473His
CA116112
NM_001353199.2:c.1419G>C
CA375313581
NM_001353199.2:c.1419G>T