ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA098643
Gene: GJB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216293
ClinVar RCV Id:
RCV000200595
RCV000789860
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000157.1:p.Thr55Ala
CA339416
NM_000166.6:c.163A>G