ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580282831
Gene: GJB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1996266
ClinVar RCV Id:
RCV002801928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.Phe69Ser
CA387461622
NM_004004.6:c.206T>C