ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827714283
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340124.1:p.Arg383Lys
CA206170
NM_001353195.2:c.1148G>A