ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825422719
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65961
ClinVar RCV Id:
RCV000056208
RCV000119493
RCV001039994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu4645Pro
CA024091
NM_001042723.2:c.13934T>C