Canonical Allele Identifier: PA2830147845
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Lys1496Asn
CA351216221
NM_057166.5:c.4488G>T
CA351216223
NM_057166.5:c.4488G>C