ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139678263
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
945468
ClinVar RCV Id:
RCV001216117
RCV002504261
RCV004010708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Asp590Tyr
CA062379
NM_001042723.2:c.1768G>T