ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828098299
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2740
ClinVar RCV Id:
RCV000002862
RCV000002863
RCV000086135
RCV000787541
RCV001075875
RCV004532276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350520.1:p.Arg35His
CA115724
NM_001363591.2:c.104G>A