ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499259381
Gene: COL9A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001843.1:p.Pro228Ser
CA791814
NM_001852.4:c.682C>T