ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830091798
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_116124.2:p.Leu618Val
CA385722911
NM_032735.3:c.1852T>G