ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828422239
Gene: AKAP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357353.1:p.Thr115Ile
CA8665462
NM_001370424.1:c.344C>T