HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001333742.1:p.[Ser1617_Val1627delinsPheTyrGluAspAlaGluGlyHisAlaHisGly;Thr1629_Pro1640delinsHisIleProGlyHisArgAlaThrThrProThrThr;Ile1642_Ile1646delinsAsnGlnLysGlyAsp] |
CA2739289478
NM_001346813.1:c.4849dup
|