ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828191461
Gene: CARD8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352879.1:p.Arg247Cys
CA9547807
NM_001365950.1:c.739C>T