ClinGen Allele Registry
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Canonical Allele Identifier:
PA106099
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
28007
ClinVar RCV:
RCV000013835
RCV000119453
RCV001787712
RCV001787713
RCV001787714
RCV001787715
RCV001787716
RCV001787717
RCV001787718
RCV003231102
RCV003591629
ClinVar Variation:
12968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ile403Met
CA023968
NM_000540.3:c.1209C>G