ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825420584
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3074841
ClinVar RCV Id:
RCV004014375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg2241Leu
CA068600
NM_001042723.2:c.6722G>T