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Canonical Allele Identifier: Get Identifier
Gene: COL2A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000369889.3:p.[Pro1073Leu;Ser1075_Gly1077delinsProLeuAla;Ala1079_Gly1080delinsLeuAla;Thr1082_Gly1089delinsLeuValGlnLeuAlaSerLysGluThr;Ala1091_Gly1095delinsGluLysLeuValHisLysAla;Met1097_Gly1098delinsTrpAsp;Ser1100_Pro1102delinsGlnAspGln]
CA2697559180
ENST00000380518.8:c.3210_3217dup