ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580118912
Gene: GABRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2095986
ClinVar RCV Id:
RCV003013942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000803.2:p.Ile306Asn
CA356811460
NM_000812.4:c.917T>A