Canonical Allele Identifier: PA3066680035
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Val675Leu
CA351198902
NM_057166.5:c.2023G>T
CA351198904
NM_057166.5:c.2023G>C