ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828375579
Gene: GJB6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5545
ClinVar RCV Id:
RCV000005883
RCV000798432
RCV002504751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357019.1:p.Ala88Val
CA253528
NM_001370090.1:c.263C>T