Canonical Allele Identifier: PA2829514637
Gene: CRYBB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 217351
ClinVar RCV Id: RCV000203319
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004067.1:p.Ser211_Ter212insArgLysAlaProArgLeuGlnGlyProArgProThrLeuGlyGlyCysLysGlyLysLysArgArgLeuGlnGlyTrpGlyGluGlyArgProValHisProSerLeuGluSerAlaGln
CA278811
NM_004076.5:c.634T>C
CA410985889
NM_004076.5:c.634T>A