ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580528099
Gene: GJB4
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002306307
ClinVar Variation:
1723746
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694944.1:p.Ala255Pro
CA754680
NM_153212.3:c.763G>C