Canonical Allele Identifier: PA2825423082
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65926
ClinVar RCV Id: RCV000056173 RCV000119555 RCV002513729
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala4901Val
CA024241
NM_001042723.2:c.14702C>T