ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828709125
Gene: COL9A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364218.1:p.Arg487Trp
CA3881839
NM_001377289.1:c.1459C>T