ClinGen Allele Registry
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Canonical Allele Identifier:
PA2741888142
Gene: COL2A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Ala1241Asp
CA384536834
NM_001844.5:c.3722C>A