ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA126260
Gene: GABRB3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000805.1:p.Arg217His
NM_000814.6:c.650G>A