Canonical Allele Identifier: PA916043838
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99774
ClinVar RCV Id: RCV000086193
ClinVar Variation Id: 636001
ClinVar RCV Id: RCV000787547

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Met369Ile
CA227846
NM_001363592.1:c.1107G>C
CA380843880
NM_001363592.1:c.1107G>A
CA380843881
NM_001363592.1:c.1107G>T