ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091999
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99725
ClinVar RCV Id:
RCV000086140
RCV000490256
RCV000678528
RCV002477254
RCV002247491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004174.1:p.Ala195Val
CA227785
NM_004183.3:c.584C>T