ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825200970
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2579389
ClinVar RCV Id:
RCV003327824
RCV003757264
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ala2566Val
CA405671672
NM_000540.3:c.7697C>T