Canonical Allele Identifier: PA2825831850
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3133727
ClinVar RCV Id: RCV004429013
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Asn254His
CA6040920
NM_001139443.2:c.760A>C