ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100063
Gene: MED12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50279
ClinVar RCV Id:
RCV000043499
RCV001580266
RCV001268310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005111.2:p.Arg1148His
CA143730
NM_005120.3:c.3443G>A