Canonical Allele Identifier: PA2580129968
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435508
ClinVar RCV Id: RCV003130433

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Phe4785Leu
CA405685374
NM_000540.3:c.14353T>C
CA405685391
NM_000540.3:c.14355C>A
CA405685401
NM_000540.3:c.14355C>G