Canonical Allele Identifier: PA2830147703
Gene: COL6A3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg1357Ser
CA2188543
NM_057166.5:c.4071A>T
CA351219679
NM_057166.5:c.4071A>C