ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573090835
Gene: SETD1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055527.1:p.Lys1505Glu
CA395633381
NM_014712.3:c.4513A>G