ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100078
Gene: MED12
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000012277
RCV001529623
RCV001580265
ClinVar Variation:
11521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005111.2:p.Asn1007Ser
CA341094
NM_005120.3:c.3020A>G