Canonical Allele Identifier: PA2830097361
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424568
ClinVar RCV Id: RCV000723634 RCV001110199 RCV001110200 RCV001375461 RCV004535536
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149162.2:p.Pro365Ser
CA6535523
NM_033150.3:c.1093C>T