Canonical Allele Identifier: PA106337
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133098
ClinVar RCV Id: RCV000119571 RCV000148804 RCV000605381 RCV001249254 RCV001729396 RCV000554319 RCV002505053
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro4973Leu
CA024276
NM_000540.3:c.14918C>T