Canonical Allele Identifier: PA1139706834
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 987303
ClinVar RCV Id: RCV001268629

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Gln238Arg
CA380838958
NM_004183.3:c.713A>G