ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139762772
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
967102
ClinVar RCV Id:
RCV001241925
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149162.2:p.Arg989His
CA6534844
NM_033150.3:c.2966G>A