Canonical Allele Identifier: PA2825831941
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1043291
ClinVar RCV Id: RCV001347379
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Met300Ile
CA6040981
NM_001139443.2:c.900G>A
CA380846384
NM_001139443.2:c.900G>C
CA380846385
NM_001139443.2:c.900G>T