ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA233851
Gene: COL9A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001842.3:p.Pro747Arg
CA233850
NM_001851.6:c.2240C>G