ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105712
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133175
ClinVar RCV Id:
RCV000119674
RCV000148811
RCV000325643
RCV000259113
RCV000530570
RCV001249381
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Asn2342Ser
CA024665
NM_000540.3:c.7025A>G