ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825198813
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2435545
ClinVar RCV Id:
RCV003130446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Lys1843Met
CA405656003
NM_000540.3:c.5528A>T