ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139723922
Gene: MED12
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005111.2:p.Lys1674del
CA913191254
NM_005120.3:c.5020_5022del