ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962908
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
544379
ClinVar RCV Id:
RCV000655501
RCV001766429
RCV002536307
RCV004004130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Gly3299Val
CA074301
NM_001042723.2:c.9896G>T