Canonical Allele Identifier: PA2829327813
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Asp227Glu
CA410523099
NM_001849.4:c.681C>A
CA410523100
NM_001849.4:c.681C>G