ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829790498
Gene: CARD8
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003118760
ClinVar Variation:
2420235
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055774.2:p.Ser312Leu
CA9547799
NM_014959.5:c.935C>T