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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.[Gly1074_Ser1075delinsAla;Gly1077_Pro1078delinsLeu;Gly1080del;Thr1082_Lys1084delinsLeuVal;Gly1086_Gly1089delinsLeuAlaSerLys;Ala1091_Gly1098delinsThrGluGluLysLeuValHisLysAla;Ser1100_Gly1101delinsTrpAsp;Ala1103delinsGlnAspGln]
CA2573148620
ENST00000380518.8:c.3219del