ClinGen Allele Registry
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Canonical Allele Identifier:
PA915961610
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000119449
RCV000610923
RCV000802489
RCV001266973
RCV001822999
RCV003227642
RCV003227643
RCV003227644
RCV003227645
RCV003227646
RCV003227647
RCV003227648
ClinVar Variation:
133029
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg401Cys
CA023956
NM_001042723.2:c.1201C>T