Canonical Allele Identifier: PA2825423167
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133098
ClinVar RCV Id: RCV000119571 RCV000148804 RCV000605381 RCV001249254 RCV001729396 RCV000554319 RCV002505053
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Pro4968Leu
CA024276
NM_001042723.2:c.14903C>T