Canonical Allele Identifier: PA2830147619
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94947
ClinVar RCV Id: RCV000080952 RCV000259065 RCV000359943 RCV001082869 RCV001548748 RCV004019559 RCV004549514
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ser1263Arg
CA222623
NM_057166.5:c.3789C>A
CA351186146
NM_057166.5:c.3789C>G
CA351186151
NM_057166.5:c.3787A>C