This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005257116.2:p.[Asp279_Gly290delinsSerCysTrpSerCysTrpSerCysTrp;Pro292_Gly308del]
CA2499306899
XM_005257059.4:c.835_836delinsTCCTGCTGGTCC