ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826172243
Gene: GABRB3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000486184
RCV001004658
ClinVar Variation:
423595
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001178250.1:p.Pro182Leu
CA16619911
NM_001191321.3:c.545C>T