ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825200852
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1409741
ClinVar RCV Id:
RCV001913901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Asp2529Asn
CA069782
NM_000540.3:c.7585G>A