Canonical Allele Identifier: PA658693698
Gene: COL2A1 HGNC NCBI
ClinVar RCV:
RCV000578377
ClinVar Variation:
488485
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001835.3:p.Gly660Glu
CA384548391
NM_001844.5:c.1979G>A