ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580122222
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1757397
ClinVar RCV Id:
RCV002367543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Met2384Val
CA075485
NM_001035.3:c.7150A>G