Canonical Allele Identifier: PA2825420798
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074113
ClinVar RCV Id: RCV004012655

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Val2579Leu
CA405671850
NM_001042723.2:c.7735G>C
CA405671854
NM_001042723.2:c.7735G>T