Canonical Allele Identifier: PA2829483366
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1043291
ClinVar RCV Id: RCV001347379

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Met360Ile
CA6040981
NM_004183.3:c.1080G>A
CA380846384
NM_004183.3:c.1080G>C
CA380846385
NM_004183.3:c.1080G>T