HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000143.2:p.[Asn314_Asn316delinsLys;Asp319_Pro324delinsProTrpMetTrpSerCys;Pro326Arg;Ser329_Gly344delinsProLeuAlaGlyGlyArgGlnValGlySerTrpMetSerThrSerSerTrp] |
CA2640280354
NM_000152.5:c.942del
|