ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658668595
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
478196
ClinVar RCV Id:
RCV000531468
RCV003488697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Asn4788Ser
CA061135
NM_000540.3:c.14363A>G