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_011522643.1:p.[Phe576_Gly578delinsSerArgValSer;Pro580_Glu588delinsValLeuLeuValLeuGlnValLysGln;Gly590_Asp600delinsAsnLeuValAsnArgValPheLeuGluThr;Gly602del;Gly605delinsLeuAla]
CA2697560405
XM_011524341.1:c.1727del