Canonical Allele Identifier: PA2825204866
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070283
ClinVar RCV Id: RCV004011801

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu4769Phe
CA061104
NM_000540.3:c.14305C>T