Allele Registry

Canonical Allele Identifier: PA250669

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV000018903

ClinVar Variation:

17359

HGVS (amino-acid)	Matching Registered Transcripts
NP_001835.3:p.Gly1053Glu	CA250668 NM_001844.5:c.3158G>A