Canonical Allele Identifier: PA915963042
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478199
ClinVar RCV Id: RCV000532700 RCV000598900 RCV001450010
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Phe4803Asn
CA658658815
NM_001042723.2:c.14407_14408delinsAA