Canonical Allele Identifier: PA2825201844
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2823830
ClinVar RCV Id: RCV003757537

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr3020Ser
CA405683779
NM_000540.3:c.9058A>T
CA405683781
NM_000540.3:c.9059C>G