ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091992
Gene: BEST1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004174.1:p.Ala146Lys
NM_004183.3:c.436_437delinsAA