Canonical Allele Identifier: PA915962247
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329025
ClinVar RCV Id: RCV000275614 RCV000312053 RCV000356178 RCV000371141 RCV000526894 RCV000513329 RCV002523063
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Val1436Met
CA065927
NM_001042723.2:c.4306G>A