ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA177743
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000151754
RCV000171760
RCV000415633
RCV000619874
RCV001098450
RCV001171188
ClinVar Variation:
165072
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ile217Val
CA010179
NM_001035.3:c.649A>G