Canonical Allele Identifier: PA2830147788
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 422102
ClinVar RCV Id: RCV000486882 RCV000800319
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Gly1449Glu
CA16617501
NM_057166.5:c.4346G>A