Canonical Allele Identifier: PA2830149097
Gene: COL6A3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Asp594Glu
CA2189412
NM_057167.4:c.1782T>A
CA351212797
NM_057167.4:c.1782T>G