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Canonical Allele Identifier: Get Identifier
Gene: COL17A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000358748.3:p.[Phe1180_Gly1183delinsLeuLeuAla;Pro1185_Pro1188delinsGlnAlaLeuLeu;Pro1190_Gly1192delinsArgArgAsp;Pro1194Leu;Asp1196_Arg1208delinsThrAlaAlaSerCysProArgMetProProThrVal;Ser1210_Ser1211delinsValAla]
CA2695212675
ENST00000369733.8:c.3540_3543del