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Canonical Allele Identifier: Get Identifier
Gene: COL2A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000338213.6:p.[Pro1004Leu;Ser1006_Gly1008delinsProLeuAla;Ala1010_Gly1011delinsLeuAla;Thr1013_Gly1020delinsLeuValGlnLeuAlaSerLysGluThr;Ala1022_Gly1026delinsGluLysLeuValHisLysAla;Met1028_Gly1029delinsTrpAsp;Ser1031_Pro1033delinsGlnAspGln]
CA2697559180
ENST00000337299.7:c.3003_3010dup