Canonical Allele Identifier: PA2825198349
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072082
ClinVar RCV Id: RCV004012112
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg1727Cys
CA066734
NM_000540.3:c.5179C>T