Canonical Allele Identifier: PA2830146286
Gene: COL6A3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Asp773Glu
CA2189290
NM_057165.5:c.2319C>A
CA351208658
NM_057165.5:c.2319C>G