ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915959487
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
643945
ClinVar RCV Id:
RCV000797763
RCV003489880
RCV002501057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ala4371Thr
CA405673506
NM_000540.3:c.13111G>A