Canonical Allele Identifier: PA2830145060
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Phe190Leu
CA2189556
NM_057164.5:c.570C>A
CA351216814
NM_057164.5:c.570C>G
CA351216827
NM_057164.5:c.568T>C