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Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000225964.6:p.[Gly641_Gly644delinsAspSerArgValSer;Pro646_Glu654delinsValLeuLeuValLeuGlnValLysGln;Gly656_Asp666delinsAsnLeuValAsnArgValPheLeuGluThr;Gly668del;Pro670_Gly671insLeu]
CA2695226627
ENST00000225964.10:c.1922del