ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580129921
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2435600
ClinVar RCV Id:
RCV003135876
RCV004538904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Thr4690Met
CA405682359
NM_000540.3:c.14069C>T