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
ENSP00000418285.1:p.Ile1744Leu
CA2187948
ENST00000472056.5:c.5230A>C
CA351206490
ENST00000472056.5:c.5230A>T