Canonical Allele Identifier: PA221125
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93257
ClinVar RCV Id: RCV000079134 RCV000801203
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr4980Met
CA024280
NM_000540.3:c.14939C>T