ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962285
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000305865
RCV000359436
RCV000360443
RCV000400904
RCV000540830
RCV000721552
RCV002487448
RCV003488549
ClinVar Variation:
329032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg1583Cys
CA081610
NM_001042723.2:c.4747C>T