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: COL6A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000483630.1:p.Asp328Glu
CA410522695
ENST00000612273.1:c.984C>G
CA410522697
ENST00000612273.1:c.984C>A