Canonical Allele Identifier: PA2830146958
Gene: COL6A3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Asp372Glu
CA2189290
NM_057166.5:c.1116C>A
CA351208658
NM_057166.5:c.1116C>G