Canonical Allele Identifier: PA913196812
Gene: COL6A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly422Arg
CA10070201
NM_001848.3:c.1264G>A
CA410525836
NM_001848.3:c.1264G>C