ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA099063
Gene: GJB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195025
ClinVar RCV Id:
RCV000175537
RCV000461635
RCV001249761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000157.1:p.Val91Met
CA275057
NM_000166.6:c.271G>A