Canonical Allele Identifier: PA2828098867
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99713
ClinVar RCV Id: RCV000086125
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Asp104Glu
CA227766
NM_001363592.1:c.312C>A
CA380834258
NM_001363592.1:c.312C>G