Canonical Allele Identifier: PA916043834
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 559498
ClinVar RCV Id: RCV000754762

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Thr364Ser
CA380843751
NM_001363592.1:c.1090A>T
CA380843757
NM_001363592.1:c.1091C>G