ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573064793
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1310476
ClinVar RCV Id:
RCV001767590
RCV001868481
RCV004009011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg2402Gln
CA082356
NM_001042723.2:c.7205G>A