HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000407509.2:p.[Tyr1247_Phe1254delinsLeuProValArgGluGly;Gly1256Val;Ser1258del;Gly1260_Ile1263delinsLeu;Lys1265_Asp1269delinsProTrpGln;Arg1271_Asn1276delinsHis] |
CA2587958183
ENST00000414982.7:c.3739dup
|