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: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Ser250Arg
CA410523411
NM_058175.3:c.748A>C
CA410523422
NM_058175.3:c.750C>A
CA410523424
NM_058175.3:c.750C>G