ClinGen Allele Registry
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Canonical Allele Identifier:
PA915961734
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013830
RCV000119586
RCV000538121
RCV000608635
RCV000624176
RCV001787388
RCV001787389
RCV001787390
RCV001787391
RCV001787392
RCV001787393
RCV001787394
RCV002496349
ClinVar Variation:
12964
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg614Cys
CA024311
NM_001042723.2:c.1840C>T