Canonical Allele Identifier: PA658680880
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478213
ClinVar RCV Id: RCV000559756 RCV001803850 RCV003514375
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro816Leu
CA063246
NM_000540.3:c.2447C>T