ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825198097
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1485481
ClinVar RCV Id:
RCV002000773
RCV002579652
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ser1653Leu
CA308092804
NM_000540.3:c.4958C>T