Canonical Allele Identifier: PA2580129977
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435587
ClinVar RCV Id: RCV003130461

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Tyr4792His
CA405686811
NM_000540.3:c.14374T>C