Canonical Allele Identifier: PA2825200480
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3073765
ClinVar RCV Id: RCV004016771

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asn2324Lys
CA405667336
NM_000540.3:c.6972C>A
CA405667338
NM_000540.3:c.6972C>G