ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105458
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
132997
ClinVar RCV Id:
RCV000119414
RCV000203202
RCV000148796
RCV000209955
RCV001085699
RCV001802859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg3539His
CA023847
NM_000540.3:c.10616G>A