ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825422687
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65934
ClinVar RCV Id:
RCV000056181
RCV000119486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Glu4629Lys
CA024076
NM_001042723.2:c.13885G>A