Canonical Allele Identifier: PA645416609
Gene: COL2A1 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001835.3:p.Arg940Ter
NM_001844.5:c.[2814del;2817C>G;2819G>T]

NM_001844.5:c.2818C>T