Canonical Allele Identifier: PA2741889084
Gene: COL6A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly380Arg
CA410524709
NM_001848.3:c.1138G>A
CA410524711
NM_001848.3:c.1138G>C