ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645438972
Gene: CRYBB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
341048
ClinVar RCV Id:
RCV000279635
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001878.1:p.Arg92His
CA10165531
NM_001887.4:c.275G>A