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: COL5A2 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000384.2:p.Thr1148Ser	CA349860770 NM_000393.5:c.3443C>G CA349860773 NM_000393.5:c.3442A>T