ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA113258
Gene: GJB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17021
ClinVar RCV Id:
RCV000018548
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.Gly12Arg
CA127028
NM_004004.6:c.34G>C