ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825422809
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133061
ClinVar RCV Id:
RCV000119503
RCV001380753
RCV002498548
RCV003231155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg4732Gln
CA024118
NM_001042723.2:c.14195G>A