Canonical Allele Identifier: PA2828098331
Gene: BEST1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350520.1:p.Leu101Ile
CA179809
NM_001363591.2:c.301C>A
CA222936849
NM_001363591.2:c.300_301delinsAA