Canonical Allele Identifier: PA2830098400
Gene: COL2A1 HGNC NCBI
ClinVar RCV:
RCV004555526
ClinVar Variation:
3236332
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149162.2:p.Arg979Ser
CA6534870
NM_033150.3:c.2937A>T
CA384540535
NM_033150.3:c.2937A>C