ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580232773
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1942536
ClinVar RCV Id:
RCV002646850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350521.1:p.Ser421Asn
CA380846325
NM_001363592.1:c.1262G>A