Canonical Allele Identifier: PA645438978
Gene: CRYBB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 427749
ClinVar RCV Id: RCV000490646
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001878.1:p.Ser129Arg
CA411030683
NM_001887.4:c.387C>G
CA411030684
NM_001887.4:c.387C>A
CA411030690
NM_001887.4:c.385A>C