ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962313
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429482
ClinVar RCV Id:
RCV000493739
RCV000655573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg1660Gly
CA405652791
NM_001042723.2:c.4978C>G