ClinGen Allele Registry
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Canonical Allele Identifier:
PA236785
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000171689
RCV001179791
RCV002381553
RCV002478547
RCV002515251
RCV003995653
ClinVar Variation:
191492
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Thr4571Met
CA008025
NM_001035.3:c.13712C>T