ClinGen Allele Registry
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Canonical Allele Identifier:
PA346615
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000157457
RCV001176787
RCV002515052
RCV003998340
ClinVar Variation:
180494
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Arg1807Gln
CA009854
NM_001035.3:c.5420G>A