Allele Registry

Canonical Allele Identifier: PA2825061011

Gene: COL5A1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000084.3:p.Asp220Glu	CA375446188 NM_000093.5:c.660C>G CA375446189 NM_000093.5:c.660C>A