ClinGen Allele Registry
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Canonical Allele Identifier:
PA658801690
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000620399
RCV001180585
RCV001775924
RCV002531803
RCV004002707
ClinVar Variation:
519535
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Asn1978Ser
CA087007
NM_001035.3:c.5933A>G