ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825078057
Gene: GJB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
637251
ClinVar RCV Id:
RCV000789323
RCV003447228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000157.1:p.Thr191_Val192insSer
CA915951213
NM_000166.6:c.573_574insTCA