ClinGen Allele Registry
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Canonical Allele Identifier:
PA306952
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000182838
RCV001254617
ClinVar Variation:
201350
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ala4510Ser
CA007958
NM_001035.3:c.13528G>T