ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139710029
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
954211
ClinVar RCV Id:
RCV001226631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Glu968Lys
CA6534949
NM_001844.5:c.2902G>A