Canonical Allele Identifier: PA2830099153
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1364793
ClinVar RCV Id: RCV001937535

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149162.2:p.Phe1408Leu
CA384533133
NM_033150.3:c.4224C>G
CA384533134
NM_033150.3:c.4224C>A
CA384533139
NM_033150.3:c.4222T>C