ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645468004
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
260238
ClinVar RCV Id:
RCV000246745
RCV001033983
RCV001529580
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036462.2:p.Glu1104dup
CA5564781
NM_012330.4:c.3288_3290dup
CA5564784
NM_012330.4:c.3310_3312dup