Canonical Allele Identifier: PA2830148925
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Phe391Leu
CA2189556
NM_057167.4:c.1173C>A
CA351216814
NM_057167.4:c.1173C>G
CA351216827
NM_057167.4:c.1171T>C