ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658681489
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002527785
ClinVar Variation:
463549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Asp400Asn
CA345377490
NM_001035.3:c.1198G>A