Canonical Allele Identifier: PA231957
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133104
ClinVar RCV Id: RCV000119579 RCV001580394 RCV001214522
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Phe539Leu
CA024297
NM_000540.3:c.1615T>C
CA405689937
NM_000540.3:c.1617C>G
CA405689939
NM_000540.3:c.1617C>A