ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962863
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000148800
RCV000281816
RCV000287628
RCV000323995
RCV000378617
RCV000382036
RCV000725266
RCV000990203
RCV001084344
ClinVar Variation:
161365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Glu3238Gly
CA024999
NM_001042723.2:c.9713A>G