Canonical Allele Identifier: PA2580232771
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2087266
ClinVar RCV Id: RCV003009474
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Ser412Arg
CA222939941
NM_001363592.1:c.1236C>A
CA380846248
NM_001363592.1:c.1234A>C
CA380846253
NM_001363592.1:c.1236C>G