ClinGen Allele Registry
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Canonical Allele Identifier:
PA645391560
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000414217
ClinVar Variation:
372588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Glu4950Gly
CA16042325
NM_001035.3:c.14849A>G