ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825422360
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_001036188.1:p.Glu4389Lys
CA059617
NM_001042723.2:c.13165G>A