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
ENSP00000315609.4:p.Pro1481Leu
CA2188390
ENST00000347401.7:c.4442C>T
CA645514318
ENST00000347401.7:c.4442_4443delinsTT