Canonical Allele Identifier: PA272975
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161377
ClinVar RCV Id: RCV000148828 RCV000721333 RCV001450007 RCV001850019
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro4587Leu
CA024070
NM_000540.3:c.13760C>T