Canonical Allele Identifier: PA915971205
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 636734
ClinVar RCV Id: RCV000788646

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001835.3:p.Asp1418Glu
CA384533524
NM_001844.5:c.4254C>G
CA384533525
NM_001844.5:c.4254C>A