ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA212043
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224367
ClinVar RCV Id:
RCV000209978
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Glu554Gly
CA062249
NM_000540.3:c.1661A>G