ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499232959
Gene: CRYBB2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000487.1:p.[Arg189Cys;Arg191His]
CA2499226042
NM_000496.3:c.565_572delinsTGCATCCA