ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830149072
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
162554
ClinVar RCV Id:
RCV000371027
RCV000727373
RCV000804572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Ala563Thr
CA295323
NM_057167.4:c.1687G>A