Canonical Allele Identifier: PA2825816752
Gene: POMT1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129586.1:p.Trp347Cys
CA375311814
NM_001136114.2:c.1041G>C
CA375311816
NM_001136114.2:c.1041G>T