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Canonical Allele Identifier: Get Identifier
Gene:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000490615.1:p.Arg371_Ter372insTrpArgProGlyCysArgProSerArgGlyGlyArgArgGluArgLeuAlaTyrThrGlyAlaArgHisGlyArgGlyGlyHisAlaValAlaSerGlnAlaGlyArgAspLeuSerSerAspGlyProLeuSerTrpGlyGlnGluProSerProLeuArgValAlaGlnGlnProSerThrGluGlnLeuLeuValLeuGlnGlyGlyAlaValProSerAlaPhePheTyrSerCysPheSerGluAsnSerLeuValAspSerThrGlyThrPheGlnThrLysMetGlnGluAlaAlaAlaSerProValProCysSerPheArgGlyAlaPheAlaAlaGlySerProTrpGlyProGlnAla
CA381652249
ENST00000637084.1:c.1116A>G