Canonical Allele Identifier: PA645455540
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283406
ClinVar RCV Id: RCV000349824 RCV000689510
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Tyr3070Cys
CA2187330
NM_004369.4:c.9209A>G