ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825423083
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000173935
RCV000797894
RCV002485122
ClinVar Variation:
193772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ala4901Gly
CA024239
NM_001042723.2:c.14702C>G