ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826836422
Gene: DEAF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421884
ClinVar RCV Id:
RCV000482531
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280563.1:p.Ala347Val
CA5786248
NM_001293634.1:c.1040C>T