ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499295993
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1031066
ClinVar RCV Id:
RCV001332797
RCV001751648
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542411.2:p.Arg1233Cys
CA3750394
NM_080680.3:c.3697C>T