Canonical Allele Identifier: PA2825831641
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 143127
ClinVar RCV Id: RCV000132651 RCV001781480 RCV002478405 RCV003888561
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Arg195Trp
CA270085
NM_001139443.2:c.583C>T