ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA126259
Gene: GABRB3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001178250.1:p.Arg146His
NM_001191321.3:c.437G>A