Canonical Allele Identifier: PA2825195221
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 662533
ClinVar RCV Id: RCV000820196 RCV001759605 RCV002507438 RCV004002822
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg241Cys
CA069309
NM_000540.3:c.721C>T