HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000343782.3:p.[Gln187_Cys189del;Ser191_Asn192delinsAlaThr;Arg194_Cys196delinsThrArgAla;Phe198_Ala199delinsValPro;Asn201_Val211delinsProProThrCysProThrCysCysCysProProPro;Phe213_Pro216delinsProSerThrPhe;Leu218Phe] |
CA2686921909
ENST00000345060.5:c.561_564del
|