ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA117203
Gene: GJB4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5006
ClinVar RCV Id:
RCV000005309
RCV000413053
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694944.1:p.Thr85Pro
CA117202
NM_153212.3:c.253A>C