Canonical Allele Identifier: PA916043841
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496689
ClinVar RCV Id: RCV000590969
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Met371Ile
CA380843916
NM_001363592.1:c.1113G>T
CA380843918
NM_001363592.1:c.1113G>A
CA380843922
NM_001363592.1:c.1113G>C