Canonical Allele Identifier: PA2573179561
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1511825
ClinVar RCV Id: RCV002020608
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu554Asp
CA405690482
NM_001042723.2:c.1662G>C
CA405690504
NM_001042723.2:c.1662G>T