Canonical Allele Identifier: PA2830148037
Gene: COL6A3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ile1744Leu
CA2187948
NM_057166.5:c.5230A>C
CA351206490
NM_057166.5:c.5230A>T