Canonical Allele Identifier: PA127155
Gene: COL2A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_149162.2:p.Arg650Cys
NM_033150.3:c.1947_1948delinsAT

NM_033150.3:c.1948C>T