ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962216
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000079142
RCV000119615
RCV000209973
RCV000260420
RCV000555541
RCV001125254
ClinVar Variation:
93265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ser1342Gly
CA024415
NM_001042723.2:c.4024A>G