Canonical Allele Identifier: PA2825422681
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 66002
ClinVar RCV Id: RCV000056249 RCV000119485
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Tyr4626Asn
CA024074
NM_001042723.2:c.13876T>A