ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658801613
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
487620
ClinVar RCV Id:
RCV000656197
RCV001176899
RCV002506386
RCV002367975
RCV003153749
RCV004001213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Pro1256Leu
CA086441
NM_001035.3:c.3767C>T