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Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005257116.2:p.[Gly335_Gly338delinsAspSerArgValSer;Pro340_Glu348delinsValLeuLeuValLeuGlnValLysGln;Gly350_Asp360delinsAsnLeuValAsnArgValPheLeuGluThr;Gly362del;Pro364_Gly365insLeu]
CA2695226627
XM_005257059.4:c.1004del