Canonical Allele Identifier: PA645416304
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 308931
ClinVar RCV Id: RCV000296689 RCV000351659 RCV000763850 RCV000976095 RCV004537733
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001835.3:p.Pro268Leu
CA6535779
NM_001844.5:c.803C>T