ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829195352
Gene: KAT14
HGNC
NCBI
Linked Data
ClinVar Variation Id:
402155
ClinVar RCV Id:
RCV000454346
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001379006.1:p.Glu466Lys
CA9775742
NM_001392077.1:c.1396G>A