ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573203355
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340125.1:p.Arg75Cys
CA375306235
NM_001353196.2:c.223C>T