Canonical Allele Identifier: PA916043840
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99776
ClinVar RCV Id: RCV000086195
ClinVar Variation Id: 636002
ClinVar RCV Id: RCV000787548 RCV003558596
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Met370Leu
CA227848
NM_001363592.1:c.1108A>T
CA380843890
NM_001363592.1:c.1108A>C