Canonical Allele Identifier: PA645455025
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 287442
ClinVar RCV Id: RCV000284694 RCV002521973
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ser647Thr
CA2189510
NM_004369.4:c.1939T>A