ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645456376
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000280179
RCV000335257
RCV000338681
RCV000398390
RCV000656969
RCV000818112
RCV001266921
RCV001731554
ClinVar Variation:
281479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg3550Trp
CA054285
NM_000540.3:c.10648C>T