Canonical Allele Identifier: PA2825195698
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 854823
ClinVar RCV Id: RCV001059952

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser557Phe
CA405690551
NM_000540.3:c.1670C>T