ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645391511
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000489541
RCV002470876
ClinVar Variation:
426248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ile4857Val
CA345426727
NM_001035.3:c.14569A>G