ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645396975
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_068712.1:p.Pro253Leu
CA16619911
NM_021912.4:c.758C>T