ClinGen Allele Registry
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Canonical Allele Identifier:
PA282336
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000030429
RCV000036801
RCV000249909
RCV000283576
RCV000380338
RCV001811220
RCV003996145
ClinVar Variation:
36750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Gln2958Arg
CA011083
NM_001035.3:c.8873A>G