Canonical Allele Identifier: PA2825422115
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074032
ClinVar RCV Id: RCV004012574

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp4214Glu
CA405670856
NM_001042723.2:c.12642C>A
CA405670857
NM_001042723.2:c.12642C>G