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
NP_004360.2:p.Ser2865Arg
CA351192020
NM_004369.4:c.8595T>G
CA351192021
NM_004369.4:c.8595T>A
CA351192025
NM_004369.4:c.8593A>C