ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658804671
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000655520
ClinVar Variation:
544395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg614Gly
CA405693889
NM_000540.3:c.1840C>G