Canonical Allele Identifier: PA2829532420
Gene: COL6A3 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1066Cys
CA2189221
NM_004369.4:c.3196C>T