ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825225645
Gene: GABRB3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000706365
ClinVar Variation:
582321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000805.1:p.Pro253His
CA391463228
NM_000814.6:c.758C>A