This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: COL2A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001835.3:p.Ser1001Leu
NM_001844.5:c.3002C>T