ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA127177
Gene: COL2A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_149162.2:p.Arg584Ter
NM_033150.3:c.1750C>T