ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915962528
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
590580
ClinVar RCV Id:
RCV000721636
RCV001258048
RCV001862100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Val2354Met
CA082317
NM_001042723.2:c.7060G>A