ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825201557
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
523076
ClinVar RCV Id:
RCV000626286
RCV003133414
RCV002529788
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Met2816Val
CA072049
NM_000540.3:c.8446A>G