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Canonical Allele Identifier: Get Identifier
Gene: COL17A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000485.3:p.[Phe1262_Gly1265delinsLeuLeuAla;Pro1267_Pro1270delinsGlnAlaLeuLeu;Pro1272_Gly1274delinsArgArgAsp;Pro1276Leu;Asp1278_Arg1290delinsThrAlaAlaSerCysProArgMetProProThrVal;Ser1292_Ser1293delinsValAla]
CA2695212675
NM_000494.4:c.3786_3789del