ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580326084
Gene: MED12
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005111.2:p.Ser2133_Gln2136del
CA2436359036
NM_005120.3:c.6397_6408del