ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306958
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000182844
RCV001798636
RCV002517804
ClinVar Variation:
201356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Asn4763Ser
CA008206
NM_001035.3:c.14288A>G