Canonical Allele Identifier: PA2825831489
Gene: BEST1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Leu147Ile
CA179809
NM_001139443.2:c.439C>A
CA222936849
NM_001139443.2:c.438_439delinsAA