Canonical Allele Identifier: PA2828098966
Gene: BEST1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Leu207Ile
CA179809
NM_001363592.1:c.619C>A
CA222936849
NM_001363592.1:c.618_619delinsAA