ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741816776
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2901490
ClinVar RCV Id:
RCV003756894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg3903Leu
CA405661143
NM_000540.3:c.11708G>T