ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580211960
Gene: SETD1B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340274.1:p.Pro1514Leu
CA386999212
NM_001353345.2:c.4541C>T