ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826849688
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2750
ClinVar RCV Id:
RCV000002875
RCV000726591
RCV000787540
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287715.1:p.Leu80Val
CA252412
NM_001300786.2:c.238C>G