ClinGen Allele Registry
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Canonical Allele Identifier:
PA658681741
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000520895
RCV001188646
RCV002413416
RCV002527633
RCV004003630
ClinVar Variation:
451818
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ser2687Asn
CA087562
NM_001035.3:c.8060G>A