Canonical Allele Identifier: PA2830147327
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 128819
ClinVar RCV Id: RCV000180594 RCV000304466 RCV000224823 RCV001081946 RCV001358668 RCV004549581
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Glu779Lys
CA203744
NM_057166.5:c.2335G>A