ClinGen Allele Registry
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Canonical Allele Identifier:
PA092752
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000013820
RCV000182746
RCV001798004
RCV003298032
ClinVar Variation:
12954
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ser2246Leu
CA010282
NM_001035.3:c.6737C>T