ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828099134
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1517426
ClinVar RCV Id:
RCV002041079
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350522.1:p.Trp14_Asn15delinsCysTyr
CA2573147315
NM_001363593.2:c.42_43delinsCT