Canonical Allele Identifier: PA2573238378
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1399982
ClinVar RCV Id: RCV001917961 RCV002555615
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Thr2887Ile
CA2187471
NM_004369.4:c.8660C>T