Canonical Allele Identifier: PA232039
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133165
ClinVar RCV Id: RCV000119663 RCV001047827 RCV001588955
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val2210Phe
CA024625
NM_000540.3:c.6628G>T