ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916048157
Gene: RFXANK
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001357163.1:p.Asp99Val
NM_001370234.1:c.296A>T