ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139673661
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
919585
ClinVar RCV Id:
RCV001177825
RCV002555480
RCV004006416
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Arg2144Cys
CA087100
NM_001035.3:c.6430C>T