ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573180210
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1375986
ClinVar RCV Id:
RCV001902570
RCV004009245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ser2609Trp
CA405673034
NM_001042723.2:c.7826C>G