ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA231909
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65952
ClinVar RCV Id:
RCV000056199
RCV000119542
RCV004528261
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.His4887Tyr
CA024212
NM_000540.3:c.14659C>T