Canonical Allele Identifier: PA916015634
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Phe1748Leu
CA2188713
NM_004369.4:c.5244T>A
CA351187883
NM_004369.4:c.5244T>G
CA351187888
NM_004369.4:c.5242T>C