ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828098383
Gene: BEST1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000002868
RCV002054410
ClinVar Variation:
2745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350520.1:p.Val133Met
CA115730
NM_001363591.2:c.397G>A