ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913196428
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
617753
ClinVar RCV Id:
RCV000754873
RCV001368744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Met3239Lys
CA074078
NM_000540.3:c.9716T>A