ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826849592
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
812229
ClinVar RCV Id:
RCV001002888
RCV001860520
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287715.1:p.Ile13Asn
CA380833738
NM_001300786.2:c.38T>A