ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830147783
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_476507.3:p.Gly1446Val
CA10602841
NM_057166.5:c.4337G>T