ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826849883
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
386501
ClinVar RCV Id:
RCV001106450
RCV001105325
RCV001060186
RCV001105324
RCV002466499
RCV003889889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287715.1:p.Ala265Thr
CA6040973
NM_001300786.2:c.793G>A