Canonical Allele Identifier: PA1139680905
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 840575
ClinVar RCV Id: RCV001042606 RCV003130115 RCV004004753
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ser2542Asn
CA405671327
NM_001042723.2:c.7625G>A