Canonical Allele Identifier: PA2573064797
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330357
ClinVar RCV Id: RCV001803450
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Cys2606Ser
CA070340
NM_001042723.2:c.7816T>A
CA405672961
NM_001042723.2:c.7817G>C