ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106018
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65948
ClinVar RCV Id:
RCV000056195
RCV000119554
RCV001382210
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Gly4899Glu
CA024237
NM_000540.3:c.14696G>A