Canonical Allele Identifier: PA2830150461
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282195
ClinVar RCV Id: RCV000328641 RCV000341324 RCV001204637 RCV003137882 RCV004547666
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala2330Val
CA2187767
NM_057167.4:c.6989C>T