ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580287596
Gene: BEST1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004174.1:p.Arg47Leu
CA380832164
NM_004183.3:c.140G>T