Canonical Allele Identifier: PA2573294300
Gene: COL6A3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Gly838Arg
CA2189088
NM_057164.5:c.2512G>A
CA351199554
NM_057164.5:c.2512G>C