ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580485006
Gene: BUD13
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2374265
ClinVar RCV Id:
RCV004208371
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116114.1:p.Arg597Cys
CA6287877
NM_032725.3:c.1789C>T