ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915961648
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224673
ClinVar RCV Id:
RCV000231682
RCV000721364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Glu480Lys
CA10575982
NM_001042723.2:c.1438G>A