Canonical Allele Identifier: PA2830147514
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Phe1141Leu
CA2188713
NM_057166.5:c.3423T>A
CA351187883
NM_057166.5:c.3423T>G
CA351187888
NM_057166.5:c.3421T>C