ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105405
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000119717
RCV003231157
ClinVar Variation:
133206
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg2508Gly
CA024816
NM_000540.3:c.7522C>G