ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092484
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001813980
RCV003525856
ClinVar Variation:
12963
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ala4860Gly
CA008311
NM_001035.3:c.14579C>G