Canonical Allele Identifier: PA891865172
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590573
ClinVar RCV Id: RCV000721622 RCV001868381
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ile2242Met
CA068603
NM_000540.3:c.6726C>G