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
NP_000079.2:p.[Pro621_Pro627delinsLeuAlaLeuLeuValProLeu;Gly629Arg;Arg631_Pro636delinsValAsnLysAlaLeuLeu;Gly638_Gly644delinsProProAspSerArgValSer;Pro646_Pro651delinsValLeuLeuValLeu]
CA658656709
NM_000088.4:c.1862_1865del