HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000377908.3:p.[Val504_Leu505insSerAlaPro;His507_Ser508delinsThrPhe;His510delinsProLeuArgIleAsnLysPhe;His512_Leu513delinsPheCysPhePro] |
CA6598792
ENST00000394384.7:c.1512dup
|