Canonical Allele Identifier: PA2830148021
Gene: COL6A3 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Thr1726Lys
CA2187977
NM_057166.5:c.5177C>A