ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825831884
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3133723
ClinVar RCV Id:
RCV004429009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001132915.1:p.Met276Val
CA380846183
NM_001139443.2:c.826A>G