ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139710184
Gene: COL2A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Arg1192Gln
CA6534704
NM_001844.5:c.3575G>A