Canonical Allele Identifier: PA2825422849
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070283
ClinVar RCV Id: RCV004011801

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu4764Phe
CA061104
NM_001042723.2:c.14290C>T