ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580449990
Gene: RBKS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071411.1:p.Ala274Val
CA1585665
NM_022128.2:c.821C>T