Canonical Allele Identifier: PA2830147497
Gene: COL6A3 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg1120Gln
CA2188723
NM_057166.5:c.3359G>A