ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828098682
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99686
ClinVar RCV Id:
RCV000086094
RCV000262526
RCV000272476
RCV000357304
RCV000298984
RCV001103575
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350520.1:p.Leu461Phe
CA227734
NM_001363591.2:c.1381C>T