ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829658091
Gene: KAT6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3112760
ClinVar RCV Id:
RCV004403671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006757.2:p.Ser1477Leu
CA371065828
NM_006766.3:c.4430C>T