ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825200636
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1015752
ClinVar RCV Id:
RCV001314661
RCV002499608
RCV003132401
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg2385His
CA069189
NM_000540.3:c.7154G>A