Canonical Allele Identifier: PA645433454
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Gly733Arg
CA10604873
NM_001849.4:c.2197G>A
CA410542038
NM_001849.4:c.2197G>C