ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825422872
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000056209
RCV000119508
RCV001854162
ClinVar Variation:
65962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu4788Pro
CA024130
NM_001042723.2:c.14363T>C