Canonical Allele Identifier: PA232057
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133178
ClinVar RCV Id: RCV000119677 RCV001588958
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu2344Asp
CA024673
NM_000540.3:c.7032G>C
CA405667776
NM_000540.3:c.7032G>T