Canonical Allele Identifier: PA658680987
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478233
ClinVar RCV Id: RCV000541033 RCV001546453 RCV002476208 RCV004024433
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr1616Met
CA066462
NM_000540.3:c.4847C>T