ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102971
Gene: GNAQ
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000043592
RCV000043593
RCV000533476
RCV001526543
RCV001526638
RCV001705695
RCV002254275
RCV002294003
RCV003221795
ClinVar Variation:
50853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002063.2:p.Arg183Gln
CA143805
NM_002072.5:c.548G>A