ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3077828354
Gene: BEST1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004174.1:p.Arg255Gly
CA380839654
NM_004183.3:c.763C>G