ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573260497
Gene: SETD1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055527.1:p.Gly535Glu
CA395655266
NM_014712.3:c.1604G>A