ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306927
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000182809
RCV003114334
RCV003996781
ClinVar Variation:
201323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Tyr4080Cys
CA007383
NM_001035.3:c.12239A>G