ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139740390
Gene: GABRB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
973238
ClinVar RCV Id:
RCV001249642
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068711.1:p.Leu283Pro
CA362175492
NM_021911.3:c.848T>C