Canonical Allele Identifier: PA2830150574
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335103

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Lys2478Gln
CA10612833
NM_057167.4:c.7432A>C