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.Thr172Ser	CA400226152 NM_000088.4:c.515C>G CA400226176 NM_000088.4:c.514A>T