Canonical Allele Identifier: PA097761
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17368
ClinVar RCV Id: RCV000018912 RCV001385337 RCV000988828 RCV003323361 RCV003228897
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001835.3:p.Arg275Cys
CA127158
NM_001844.5:c.823C>T