ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: POMT1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
XP_011516446.1:p.Asp433Glu
CA148548
XM_011518144.1:c.1299C>A
CA5293591
XM_011518144.1:c.1299C>G