ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827625434
Gene: CARD8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338713.1:p.Arg248His
CA406665363
NM_001351784.2:c.743G>A