Canonical Allele Identifier: PA645455533
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288613
ClinVar RCV Id: RCV000344053 RCV000653541 RCV001138501
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Thr3039Met
CA2187357
NM_004369.4:c.9116C>T