ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416796
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
308903
ClinVar RCV Id:
RCV000312017
RCV000402928
RCV001235510
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Arg1459Cys
CA6534469
NM_001844.5:c.4375C>T