ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915961963
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374974
ClinVar RCV Id:
RCV000415622
RCV000721486
RCV000557798
RCV001580387
RCV002481292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg1032His
CA064406
NM_001042723.2:c.3095G>A