ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825421726
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000210015
RCV000521020
RCV000547789
RCV000626705
RCV000764195
ClinVar Variation:
224400
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg3862Cys
CA057247
NM_001042723.2:c.11584C>T