Canonical Allele Identifier: PA2826849746
Gene: BEST1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001287715.1:p.Leu147Ile
CA179809
NM_001300786.2:c.439C>A
CA222936849
NM_001300786.2:c.438_439delinsAA