Canonical Allele Identifier: PA2829344781
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1022633
ClinVar RCV Id: RCV001322568

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001835.3:p.Pro1040Leu
CA236521259
NM_001844.5:c.3119C>T