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Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011522643.1:p.[Gly575_Gly578delinsAspSerArgValSer;Pro580_Glu588delinsValLeuLeuValLeuGlnValLysGln;Gly590_Asp600delinsAsnLeuValAsnArgValPheLeuGluThr;Gly602del;Pro604_Gly605insLeu]
CA2695226627
XM_011524341.1:c.1724del