ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA132960
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43767
ClinVar RCV Id:
RCV000036726
RCV001191833
RCV002513414
RCV002444472
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Val1077Ala
CA009141
NM_001035.3:c.3230T>C