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.Asp1378Glu	CA400191994 NM_000088.4:c.4134C>G CA400191996 NM_000088.4:c.4134C>A