ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825419295
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3072600
ClinVar RCV Id:
RCV004013622
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ala25Thr
CA069596
NM_001042723.2:c.73G>A