ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828388458
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3065917
ClinVar RCV Id:
RCV003989372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357070.1:p.Asn1129Ser
CA377296566
NM_001370141.1:c.3386A>G