ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580147080
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2494326
ClinVar RCV Id:
RCV003206515
RCV003779740
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Pro3303Ser
CA084969
NM_001042723.2:c.9907C>T