Canonical Allele Identifier: PA2830149984
Gene: COL6A3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg1758Ser
CA2188543
NM_057167.4:c.5274A>T
CA351219679
NM_057167.4:c.5274A>C