ClinGen Allele Registry
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Canonical Allele Identifier:
PA658801602
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
515737
ClinVar RCV:
RCV001191182
RCV002458038
RCV002483823
RCV002529903
RCV004003865
ClinVar Variation:
532336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Pro1124Leu
CA086359
NM_001035.3:c.3371C>T