ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106460
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013865
RCV000013866
RCV000119574
RCV001787796
RCV001787797
RCV001787798
RCV001787799
RCV001787800
RCV001787801
RCV001787802
ClinVar Variation:
12993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Tyr522Ser
CA024286
NM_000540.3:c.1565A>C