ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826849758
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99735
ClinVar RCV Id:
RCV000086150
RCV000763263
RCV000787543
RCV001073491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287715.1:p.Arg158Cys
CA227795
NM_001300786.2:c.472C>T