Canonical Allele Identifier: PA2830146517
Gene: COL6A3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Gly1039Arg
CA2189088
NM_057165.5:c.3115G>A
CA351199554
NM_057165.5:c.3115G>C