Canonical Allele Identifier: PA2830097189
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449001
ClinVar RCV Id: RCV000518971 RCV001254635 RCV002506265 RCV001814182 RCV001027723 RCV003403225
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149162.2:p.Ala233Val
CA384521889
NM_033150.3:c.698C>T