Canonical Allele Identifier: PA2580146966
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435515
ClinVar RCV Id: RCV003130437

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Phe2239Leu
CA068582
NM_001042723.2:c.6717C>G
CA405666272
NM_001042723.2:c.6715T>C
CA405666277
NM_001042723.2:c.6717C>A