Canonical Allele Identifier: PA645456349
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329090
ClinVar RCV Id: RCV000285479 RCV000288960 RCV000342818 RCV000391499 RCV000512826 RCV000556213 RCV001198104 RCV001801799 RCV001820986 RCV002495039
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu3212Gly
CA073912
NM_000540.3:c.9635A>G