ClinGen Allele Registry
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Canonical Allele Identifier:
PA306823
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000182687
RCV001804914
RCV002399660
RCV003765127
ClinVar Variation:
201220
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ile559Val
CA008550
NM_001035.3:c.1675A>G