ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830149585
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452912
ClinVar RCV Id:
RCV000523100
RCV001141519
RCV001297709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Ala1296Thr
CA67816612
NM_057167.4:c.3886G>A