Canonical Allele Identifier: PA2573237218
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1441709
ClinVar RCV Id: RCV001950705 RCV002250787
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Trp287Cys
CA380840383
NM_004183.3:c.861G>T
CA380840385
NM_004183.3:c.861G>C