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: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000315873.4:p.Arg1758Ser
CA2188543
ENST00000353578.9:c.5274A>T
CA351219679
ENST00000353578.9:c.5274A>C