ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA261478
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000036672
RCV000182821
ClinVar Variation:
43720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Glu4182Gln
CA007580
NM_001035.3:c.12544G>C