Canonical Allele Identifier: PA1139680954
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 962225
ClinVar RCV Id: RCV001236040 RCV002480770 RCV004004865
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Thr2544Ser
CA069888
NM_001042723.2:c.7631C>G
CA405671378
NM_001042723.2:c.7630A>T