ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825224200
Gene: GABRB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
568337
ClinVar RCV Id:
RCV000688663
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000804.1:p.Val282Phe
CA362175499
NM_000813.3:c.844G>T