ClinGen Allele Registry
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Canonical Allele Identifier:
PA891865308
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
581687
ClinVar RCV:
RCV000721397
ClinVar Variation:
590470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ile4898Asn
CA405690302
NM_000540.3:c.14693T>A