ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825423048
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000056192
RCV000119544
ClinVar Variation:
65945
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Gly4886Arg
CA024215
NM_001042723.2:c.14656G>C