ClinGen Allele Registry
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Canonical Allele Identifier:
PA891865267
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
590424
ClinVar RCV Id:
RCV000721305
RCV001362581
RCV002507264
RCV004026924
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Glu4394Lys
CA059617
NM_000540.3:c.13180G>A