ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825201203
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1391300
ClinVar RCV Id:
RCV001910962
RCV003134198
RCV003355619
RCV004010781
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ser2617Leu
CA070831
NM_000540.3:c.7850C>T