ClinGen Allele Registry
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Canonical Allele Identifier:
PA916076398
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
546495
ClinVar RCV Id:
RCV000658381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149162.2:p.Gly999Glu
CA384540378
NM_033150.3:c.2996G>A