Canonical Allele Identifier: PA2830149211
Gene: COL6A3 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala743Thr
CA2189314
NM_057167.4:c.2227G>A