Canonical Allele Identifier: PA098363
Gene: COL6A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly275Arg
CA410521473
NM_001848.3:c.823G>A
CA410521475
NM_001848.3:c.823G>C