Canonical Allele Identifier: PA232117
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133218
ClinVar RCV Id: RCV000119739 RCV001802877
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp2730His
CA024894
NM_000540.3:c.8188G>C