Canonical Allele Identifier: PA1139706005
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Phe774Leu
CA2189428
NM_004369.4:c.2320T>C
CA351213207
NM_004369.4:c.2322T>G
CA351213208
NM_004369.4:c.2322T>A