Canonical Allele Identifier: PA2573171485
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1385982
ClinVar RCV Id: RCV001889099

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Phe3898Leu
CA405661062
NM_000540.3:c.11692T>C
CA405661073
NM_000540.3:c.11694C>A
CA405661074
NM_000540.3:c.11694C>G