Canonical Allele Identifier: PA2825201142
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2064676
ClinVar RCV Id: RCV002953604 RCV002953605 RCV004007721
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu2607Phe
CA070343
NM_000540.3:c.7819C>T