ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA181438
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178121
ClinVar RCV Id:
RCV000154820
RCV000765090
RCV001179780
RCV001335571
RCV002516109
RCV003998275
RCV001256936
RCV001762335
RCV002362815
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Thr2107Met
CA010101
NM_001035.3:c.6320C>T