Canonical Allele Identifier: PA2825198691
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3069294
ClinVar RCV Id: RCV004007838

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Met1814Ile
CA081788
NM_000540.3:c.5442G>A
CA405655324
NM_000540.3:c.5442G>C
CA405655327
NM_000540.3:c.5442G>T