ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA250706
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17403
ClinVar RCV Id:
RCV000022483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Gly546Val
CA250704
NM_001844.5:c.1637G>T