Canonical Allele Identifier: PA1139678242
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 842750
ClinVar RCV Id: RCV001045222 RCV001124539 RCV001124540 RCV003331032
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asn580Ser
CA062375
NM_001042723.2:c.1739A>G