ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580133874
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002389084
RCV004007312
ClinVar Variation:
1771607
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Val4653Ile
CA085539
NM_001035.3:c.13957G>A