Canonical Allele Identifier: PA116107
Gene: POMT1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_009102.3:p.Trp582Cys
NM_007171.3:c.1746G>C

NM_007171.3:c.1746G>T