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
ENSP00000225964.5:p.[Gly485_Glu486delinsTrp;Gly488_Gly497del;Asp499_Ser513delinsTrpTrpThrTrp]
CA2697560408
ENST00000225964.9:c.1451dup