ClinGen Allele Registry
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Canonical Allele Identifier:
PA106439
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013848
RCV000013849
RCV000119509
RCV001060960
RCV001787775
RCV001787776
RCV001787777
RCV001787778
RCV001787779
RCV001787780
RCV001787781
ClinVar Variation:
12979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Tyr4796Cys
CA024131
NM_000540.3:c.14387A>G