ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139726740
Gene: DEAF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001266543
ClinVar Variation:
985569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066288.2:p.Gln230Glu
CA378932803
NM_021008.4:c.688C>G