Canonical Allele Identifier: PA2573169976
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1418757
ClinVar RCV Id: RCV001931028

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp4773Asn
CA061110
NM_000540.3:c.14317G>A