ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580442972
Gene: DEAF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1719966
ClinVar RCV Id:
RCV002305067
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066288.2:p.Leu266Phe
CA378931775
NM_021008.4:c.796C>T