Canonical Allele Identifier: PA2830099120
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2708952
ClinVar RCV Id: RCV003547754

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149162.2:p.Thr1388Ser
CA384533262
NM_033150.3:c.4163C>G
CA384533264
NM_033150.3:c.4162A>T