ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826850304
Gene: BEST1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287716.1:p.Thr247Ile
CA227854
NM_001300787.2:c.740C>T