ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829967133
Gene: DEAF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066288.2:p.Lys250Glu
CA378932205
NM_021008.4:c.748A>G