ClinGen Allele Registry
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Canonical Allele Identifier:
PA231793
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000119447
RCV001787937
RCV001787938
RCV001787939
RCV001787940
RCV001787941
RCV001787942
RCV001787943
RCV002281939
RCV004017405
ClinVar Variation:
133027
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Gly3990Val
CA023953
NM_000540.3:c.11969G>T