Canonical Allele Identifier: PA2830145516
Gene: COL6A3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Arg736Ser
CA2189170
NM_057164.5:c.2208G>T
CA351202946
NM_057164.5:c.2208G>C