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
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001180569.1:p.Ile1294_Ter1295insTyrGluHisCysValProSerArgTrpGlySerThrHisCysGluCysAspAspCysThrSerGlyIleSerAspIleProAspAsnValAsnLeuGlnLeuGlyLeuHisTrpAsnTyrArgAsnAspSerPheAspHisLeuLysAsnPheHisSerGlySerAlaArgHisHisCysPheIleIleLeuTyrGlnProIleAlaLysLysValCysAlaSerAsnPheSerLeuIleIleSerLysAsnIlePheGlnArgIleLysSerSerValAlaLeuValAlaIleThrGluThrLeuSerSerPheGlnProGlyAsnLysPhe |
CA344036144
NM_001193640.2:c.3885G>C
CA344036147
NM_001193640.2:c.3885G>T
|