ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580188914
Gene: BEST3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2368539
ClinVar RCV Id:
RCV004205093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269545.1:p.Asp12Asn
CA6681640
NM_001282616.2:c.34G>A