ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573173504
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1436888
ClinVar RCV Id:
RCV002492021
RCV002561560
RCV004010944
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Gly199Val
CA087011
NM_001035.3:c.596G>T