ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825422611
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000056206
RCV000119484
RCV001066791
ClinVar Variation:
65959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu4563Pro
CA024069
NM_001042723.2:c.13688T>C