Canonical Allele Identifier: PA2829344803
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1716247
ClinVar RCV Id: RCV002303325
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001835.3:p.Val1064Leu
CA384540427
NM_001844.5:c.3190G>T
CA384540429
NM_001844.5:c.3190G>C