ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA231795
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000119448
RCV003221807
ClinVar Variation:
133028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg401Gly
CA023955
NM_000540.3:c.1201C>G