HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000537.3:p.[Ala83_Ala84delinsGlyGly;Ala86_Ala88delinsCysThrSer;Ser90_Val97delinsLeuLeuAlaProValIlePheCys;Ser99_Gln104delinsPheProGluAsnLeuPro;Ser106_Gly108delinsGlnLeuArg;Arg110_Leu111delinsProSer] |
CA287489068
NM_000546.6:c.247dup
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