ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499232959
Gene: CRYBB2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001724776
ClinVar Variation:
1297040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000487.1:p.[Arg189Cys;Arg191His]
CA2499226042
NM_000496.3:c.565_572delinsTGCATCCA