ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825421972
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000119459
RCV001302437
RCV001449991
RCV002483204
ClinVar Variation:
133036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Asn4114Tyr
CA023980
NM_001042723.2:c.12340A>T