Canonical Allele Identifier: PA2828099030
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 941146
ClinVar RCV Id: RCV001210869
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Thr250Ser
CA6040850
NM_001363592.1:c.749C>G
CA380839561
NM_001363592.1:c.748A>T