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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.[Tyr1399_Ala1403delinsPheTrpThrLysGlnLeu;Gly1405_Ile1421delinsThrSerArgArgProCysSerSerArgAlaProMetThrTrpArgSerGlyGln;Glu1424_Arg1428delinsIleAlaGly]
CA2837994882
ENST00000380518.8:c.4196del