Canonical Allele Identifier: PA2830148431
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476563
ClinVar RCV Id: RCV000546406 RCV003139857
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Thr2267Met
CA2187491
NM_057166.5:c.6800C>T