ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580258619
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2122563
ClinVar RCV Id:
RCV003054111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Pro973His
CA384541484
NM_001844.5:c.2918C>A