ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580424624
Gene: RBAK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066986.1:p.Ser494Phe
CA366685175
NM_021163.4:c.1481C>T