ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306941
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201339
ClinVar RCV Id:
RCV000182826
RCV002470800
RCV003137706
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ala4203Val
CA007648
NM_001035.3:c.12608C>T