ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741826714
Gene: GJB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2706812
ClinVar RCV Id:
RCV003582359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091111.1:p.Ala271Ser
CA413504242
NM_001097642.3:c.811G>T