ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA250679
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17367
ClinVar RCV Id:
RCV002509163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149162.2:p.Gly840Cys
CA250678
NM_033150.3:c.2518G>T