ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828392980
Gene: RFXANK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538593
ClinVar RCV Id:
RCV000647950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357163.1:p.Ala32Val
CA9322594
NM_001370234.1:c.95C>T