ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825422721
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000542042
RCV003129924
ClinVar Variation:
478194
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.His4646Arg
CA405681310
NM_001042723.2:c.13937A>G