Canonical Allele Identifier: PA2830099122
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 308903
ClinVar RCV Id: RCV000312017 RCV000402928 RCV001235510
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149162.2:p.Arg1390Cys
CA6534469
NM_033150.3:c.4168C>T