Canonical Allele Identifier: PA2741869382
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2956365
ClinVar RCV Id: RCV003814101
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Met391Ile
CA380846086
NM_001363592.1:c.1173G>A
CA380846087
NM_001363592.1:c.1173G>C
CA380846088
NM_001363592.1:c.1173G>T