Canonical Allele Identifier: PA250683
Gene: COL2A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_149162.2:p.Gly435Cys
NM_033150.3:c.1302_1303delinsTT

NM_033150.3:c.1303G>T