ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915961666
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65935
ClinVar RCV Id:
RCV000056182
RCV000119573
RCV001854160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Glu512Lys
CA024284
NM_001042723.2:c.1534G>A