Canonical Allele Identifier: PA645456149
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329025
ClinVar RCV Id: RCV000275614 RCV000312053 RCV000356178 RCV000371141 RCV000526894 RCV000513329 RCV002523063
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val1436Met
CA065927
NM_000540.3:c.4306G>A