ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645396974
Gene: GABRB3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000240922
ClinVar Variation:
254263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068712.1:p.Gln249Lys
CA10586389
NM_021912.4:c.745C>A