ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826850311
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1804163
ClinVar RCV Id:
RCV002468901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287716.1:p.Val251Gly
CA380844093
NM_001300787.2:c.752T>G