Canonical Allele Identifier: PA891851942
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 568375
ClinVar RCV Id: RCV000688714

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp2252Glu
CA068644
NM_000540.3:c.6756C>A
CA405666356
NM_000540.3:c.6756C>G