Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Leu273Phe	CA400222644 NM_000088.4:c.819G>T CA400222647 NM_000088.4:c.819G>C