ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573237195
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1457853
ClinVar RCV Id:
RCV001972730
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004174.1:p.Thr237Ser
CA380838932
NM_004183.3:c.709A>T