Canonical Allele Identifier: PA2499259159
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1011511
ClinVar RCV Id: RCV001309320
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001835.3:p.Val983Ile
CA6534944
NM_001844.5:c.2947G>A