Canonical Allele Identifier: PA2573180213
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1391300
ClinVar RCV Id: RCV001910962 RCV003134198 RCV003355619 RCV004010781
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ser2617Leu
CA070831
NM_001042723.2:c.7850C>T