Canonical Allele Identifier: PA221133
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93280
ClinVar RCV Id: RCV000079157 RCV002490686 RCV002515759 RCV003997199
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Met2120Thr
CA024569
NM_000540.3:c.6359T>C