ClinGen Allele Registry
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Canonical Allele Identifier:
PA916043848
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
732521
ClinVar RCV Id:
RCV000907678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350521.1:p.Val423Asp
CA222939982
NM_001363592.1:c.1268T>A