ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416500
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
308919
ClinVar RCV Id:
RCV000288414
RCV000343300
RCV002262963
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Ala761Thr
CA6535166
NM_001844.5:c.2281G>A