Canonical Allele Identifier: PA891851734
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Gly760Arg
CA10072499
NM_001849.4:c.2278G>A
CA410542392
NM_001849.4:c.2278G>C