Canonical Allele Identifier: PA2828099111
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1517426
ClinVar RCV Id: RCV002041079
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Gly406Ala
CA380846206
NM_001363592.1:c.1217G>C
CA2573147315
NM_001363592.1:c.1217_1218delinsCT