Canonical Allele Identifier: PA2830145389
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285680
ClinVar RCV Id: RCV000329391 RCV001048907
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Gly596Glu
CA2189272
NM_057164.5:c.1787G>A