ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA100084
Gene: MED12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50281
ClinVar RCV Id:
RCV000043501
RCV001580268
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005111.2:p.His1729Asn
CA143732
NM_005120.3:c.5185C>A