ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830097743
Gene: COL2A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149162.2:p.Gly588Ser
CA384548471
NM_033150.3:c.1762G>A