HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000143.2:p.[Cys16_Ser20delinsLeuArgProArgVal;Ala22_Leu27delinsGlyAsnArgCysThrPro;His29_Leu32delinsAla;Asp34_Val38delinsProThr;Arg40_Gly44del] |
CA8814769
NM_000152.5:c.44dup
|