This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CRB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001180569.1:p.Ile1294_Ter1295insTrpGluHisCysValProSerArgTrpGlySerThrHisCysGluCysAspAspCysThrSerGlyIleSerAspIleProAspAsnValAsnLeuGlnLeuGlyLeuHisTrpAsnTyrArgAsnAspSerPheAspHisLeuLysAsnPheHisSerGlySerAlaArgHisHisCysPheIleIleLeuTyrGlnProIleAlaLysLysValCysAlaSerAsnPheSerLeuIleIleSerLysAsnIlePheGlnArgIleLysSerSerValAlaLeuValAlaIleThrGluThrLeuSerSerPheGlnProGlyAsnLysPhe
CA344036139
NM_001193640.2:c.3884A>G