ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830307641
Gene: BEST3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3133741
ClinVar RCV Id:
RCV004429027
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689652.2:p.Leu405Val
CA385722911
NM_152439.4:c.1213T>G