ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825200570
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1214002
ClinVar RCV Id:
RCV001591945
RCV002569134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Glu2362Lys
CA069115
NM_000540.3:c.7084G>A