ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098536
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17166
ClinVar RCV Id:
RCV000529271
RCV001091900
RCV003764602
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Cys777Arg
CA257728
NM_001849.4:c.2329T>C