Canonical Allele Identifier: PA2825832189
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99686
ClinVar RCV Id: RCV000086094 RCV000262526 RCV000272476 RCV000357304 RCV000298984 RCV001103575
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Leu507Phe
CA227734
NM_001139443.2:c.1519C>T