ClinGen Allele Registry
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Canonical Allele Identifier:
PA3077695915
Gene: BUD13
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116114.1:p.Pro148Leu
CA6288271
NM_032725.3:c.443C>T