ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825831641
Gene: BEST1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001132915.1:p.Arg195Trp
CA270085
NM_001139443.2:c.583C>T