Canonical Allele Identifier: PA2573085552
Gene: COL6A3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Asp2163Glu
CA2188250
NM_004369.4:c.6489C>G
CA351214499
NM_004369.4:c.6489C>A