ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825422884
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1990574
ClinVar RCV Id:
RCV002800974
RCV003130760
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ser4795Phe
CA405686958
NM_001042723.2:c.14384C>T