ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA134963
Gene: GJB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
44741
ClinVar RCV Id:
RCV000037840
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.Asp117Gly
CA134962
NM_004004.6:c.350A>G