ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825648019
Gene: GABRA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
947414
ClinVar RCV Id:
RCV001218487
RCV002259386
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121117.1:p.Arg112Trp
CA362178841
NM_001127645.2:c.334C>T