ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828375607
Gene: GJB6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1447794
ClinVar RCV Id:
RCV001996923
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357019.1:p.Val153Ala
CA6904435
NM_001370090.1:c.458T>C