ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916067186
Gene: GABRQ
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000948176
ClinVar Variation:
769197
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061028.3:p.Ile478Phe
CA337167427
NM_018558.4:c.1432A>T