ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828099014
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2746
ClinVar RCV Id:
RCV000002869
RCV003555902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350521.1:p.Tyr236Cys
CA115731
NM_001363592.1:c.707A>G