Canonical Allele Identifier: PA915961735
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590490
ClinVar RCV Id: RCV000721430
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asn616Lys
CA405693913
NM_001042723.2:c.1848C>A
CA405693915
NM_001042723.2:c.1848C>G