ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573181489
Gene: GABRA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1504517
ClinVar RCV Id:
RCV002047820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121120.1:p.His129Tyr
CA131084949
NM_001127648.2:c.385C>T