ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828099106
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1037476
ClinVar RCV Id:
RCV001340636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350521.1:p.Arg402Trp
CA6040964
NM_001363592.1:c.1204C>T