ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA250705
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_149162.2:p.Gly477Val
CA250704
NM_033150.3:c.1430G>T