Canonical Allele Identifier: PA2830145365
Gene: COL6A3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Asp572Glu
CA2189290
NM_057164.5:c.1716C>A
CA351208658
NM_057164.5:c.1716C>G