Canonical Allele Identifier: PA2573237236
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_004174.1:p.Trp338_Asn339delinsCysTyr
CA2573147315
NM_004183.3:c.1014_1015delinsCT