ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826101551
Gene: FUZ
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000515994
ClinVar Variation:
446687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165408.1:p.Arg248Leu
CA9584334
NM_001171937.2:c.743G>T