ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891865174
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
590575
ClinVar RCV Id:
RCV000721624
RCV001044390
RCV001580411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.His2253Tyr
CA308104435
NM_000540.3:c.6757C>T