ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825201038
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2175935
ClinVar RCV Id:
RCV002582129
RCV003130843
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.His2584Tyr
CA082591
NM_000540.3:c.7750C>T