Canonical Allele Identifier: PA2829483348
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 972579
ClinVar RCV Id: RCV001248641

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Pro346Ala
CA380846262
NM_004183.3:c.1036C>G