ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580362915
Gene: SETD1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055527.1:p.Ser1433Leu
CA8017513
NM_014712.3:c.4298C>T