ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580325576
Gene: AKAP8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005849.1:p.Ala584Glu
CA404495295
NM_005858.4:c.1751C>A