Canonical Allele Identifier: PA2825198275
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2805385
ClinVar RCV Id: RCV004011678 RCV003757445
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.His1701Tyr
CA405653770
NM_000540.3:c.5101C>T