Canonical Allele Identifier: PA645416638
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 308915
ClinVar RCV Id: RCV000333414 RCV000387243 RCV001403750 RCV003314586 RCV004544528
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001835.3:p.Arg1016Lys
CA6534909
NM_001844.5:c.3047G>A