Canonical Allele Identifier: PA916076396
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 439507
ClinVar RCV Id: RCV000507036

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149162.2:p.Gly984Arg
CA384540508
NM_033150.3:c.2950G>C
CA384540509
NM_033150.3:c.2950G>A