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
ENSP00000355180.3:p.Lys319Asn
CA16608092
ENST00000361866.8:c.957G>T
CA410522542
ENST00000361866.8:c.957G>C