ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828099000
Gene: BEST1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350521.1:p.Asp228Asn
CA115732
NM_001363592.1:c.682G>A