Canonical Allele Identifier: PA645416713
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 308908
ClinVar RCV Id: RCV000349799 RCV000397377 RCV000438916 RCV000680493 RCV000893653
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001835.3:p.Gly1246Ser
CA6534653
NM_001844.5:c.3736G>A