ClinGen Allele Registry
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Canonical Allele Identifier:
PA306845
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000182717
RCV002354480
RCV002500539
RCV002515324
ClinVar Variation:
201242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Thr1317Met
CA009414
NM_001035.3:c.3950C>T