Canonical Allele Identifier: PA2828098875
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544680
ClinVar RCV Id: RCV000721106

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Ser108Arg
CA380834339
NM_001363592.1:c.322A>C
CA380834363
NM_001363592.1:c.324C>A
CA380834366
NM_001363592.1:c.324C>G