ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825224133
Gene: GABRB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418957
ClinVar RCV Id:
RCV000478537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000804.1:p.Ile246Thr
CA16618152
NM_000813.3:c.737T>C