ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891865183
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
590583
ClinVar RCV Id:
RCV000721641
RCV000810921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Glu2381Lys
CA069181
NM_000540.3:c.7141G>A