ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828098273
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1375458
ClinVar RCV Id:
RCV001883355
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350520.1:p.Asp12Asn
CA380834616
NM_001363591.2:c.34G>A