ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA126258
Gene: GABRB3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001265560.1:p.Arg132His
NM_001278631.2:c.395G>A