ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825422758
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2435600
ClinVar RCV Id:
RCV003135876
RCV004538904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Thr4685Met
CA405682359
NM_001042723.2:c.14054C>T