ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741974953
Gene: DEAF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2580565
ClinVar RCV Id:
RCV003329760
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066288.2:p.Gln230Pro
CA378932785
NM_021008.4:c.689A>C