ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825422969
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
415655
ClinVar RCV:
RCV000489943
ClinVar Variation:
426450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu4846Pro
CA405687678
NM_001042723.2:c.14537T>C