Canonical Allele Identifier: PA2580130148
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1717712
ClinVar RCV Id: RCV002297737

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Phe4863Leu
CA405687830
NM_000540.3:c.14587T>C
CA405687844
NM_000540.3:c.14589C>A
CA405687845
NM_000540.3:c.14589C>G