ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825422992
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1056579
ClinVar RCV:
RCV001377444
ClinVar Variation:
1066439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg4856Pro
CA405687804
NM_001042723.2:c.14567G>C