Canonical Allele Identifier: PA106317
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12983
ClinVar RCV Id: RCV000013854 RCV000119413
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro3527Ser
CA023845
NM_000540.3:c.10579C>T