Canonical Allele Identifier: PA106192
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133070
ClinVar RCV Id: RCV000119517 RCV000545453 RCV001802863
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu4824Pro
CA024148
NM_000540.3:c.14471T>C