Canonical Allele Identifier: PA231907
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133082
ClinVar RCV Id: RCV000119537 RCV001588939 RCV003591682
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Met4880Thr
CA024202
NM_000540.3:c.14639T>C