Canonical Allele Identifier: PA2830144952
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288851
ClinVar RCV Id: RCV000271427 RCV001301975
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Gly71Arg
CA2189626
NM_057164.5:c.211G>A
CA351218097
NM_057164.5:c.211G>C