Canonical Allele Identifier: PA231768
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12991
ClinVar RCV Id: RCV000119408 RCV003996095 RCV000013863
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser3448Phe
CA023832
NM_000540.3:c.10343C>T