ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828383869
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2500460
ClinVar RCV Id:
RCV003225372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357065.1:p.Thr973Ile
CA377281989
NM_001370136.1:c.2918C>T