ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825194942
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1045477
ClinVar RCV Id:
RCV001349894
RCV003992507
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Leu34Val
CA405671773
NM_000540.3:c.100C>G