ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830154952
Gene: COL9A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_511040.2:p.Pro504Arg
CA233850
NM_078485.4:c.1511C>G