ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962284
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65923
ClinVar RCV Id:
RCV000056170
RCV000119622
RCV001854159
RCV002477185
RCV003996483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ala1577Thr
CA024459
NM_001042723.2:c.4729G>A