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
ENSP00000225964.5:p.Met181Ile	CA10575534 ENST00000225964.9:c.543G>A CA400225935 ENST00000225964.9:c.543G>T CA400225939 ENST00000225964.9:c.543G>C