Canonical Allele Identifier: PA2825422929
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12978
ClinVar RCV Id: RCV000013847 RCV000119520 RCV001787768 RCV001787769 RCV001787770 RCV001787771 RCV001787772 RCV001787774 RCV001787773 RCV003591630
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Thr4821Ile
CA024154
NM_001042723.2:c.14462C>T