ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826849894
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
305125
ClinVar RCV Id:
RCV000269600
RCV000300553
RCV000333972
RCV000388625
RCV000885201
RCV001106455
RCV003888716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287715.1:p.Ala270Val
CA6040979
NM_001300786.2:c.809C>T