ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825195673
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
638502
ClinVar RCV Id:
RCV000791180
RCV004001553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Leu543Val
CA308123344
NM_000540.3:c.1627T>G