ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA097387
Gene: GJB1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
245189
ClinVar RCV:
RCV000236009
RCV000688999
RCV000789850
RCV003388834
ClinVar Variation:
246098
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000157.1:p.Arg215Trp
CA10584644
NM_000166.6:c.643C>T