Allele Registry

Canonical Allele Identifier: PA915988947

Gene: MED12 HGNC NCBI

ClinVar RCV:

RCV003596569

RCV004283967

ClinVar Variation:

642897

2509295

HGVS (amino-acid)	Matching Registered Transcripts
NP_005111.2:p.Thr1787Ser	CA413535124 NM_005120.3:c.5359A>T CA413535128 NM_005120.3:c.5360C>G