Canonical Allele Identifier: PA658676851
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 452912
ClinVar RCV Id: RCV000523100 RCV001141519 RCV001297709
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ala1502Thr
CA67816612
NM_004369.4:c.4504G>A