ClinGen Allele Registry
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Canonical Allele Identifier:
PA645455399
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286465
ClinVar RCV Id:
RCV000263794
RCV000416242
RCV000542511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Gly1879Ser
CA2188621
NM_004369.4:c.5635G>A