Canonical Allele Identifier: PA2830147596
Gene: COL6A3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Asp1241Glu
CA2188634
NM_057166.5:c.3723C>A
CA351186294
NM_057166.5:c.3723C>G