Canonical Allele Identifier: PA2830150722
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 497839
ClinVar RCV Id: RCV000594579 RCV001234226 RCV004024719
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Thr2674Met
CA2187480
NM_057167.4:c.8021C>T