ClinGen Allele Registry
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Canonical Allele Identifier:
PA645433686
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286208
ClinVar RCV Id:
RCV000264062
RCV001257058
RCV002227118
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Arg862Gln
CA10072937
NM_001849.4:c.2585G>A