ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830150067
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
280028
ClinVar RCV Id:
RCV000334260
RCV001059032
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Gly1847Val
CA10602841
NM_057167.4:c.5540G>T