Canonical Allele Identifier: PA1139673320
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 892825
ClinVar RCV Id: RCV001129543 RCV001129541 RCV001129542
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro4763Gln
CA405684815
NM_000540.3:c.14288C>A