Canonical Allele Identifier: PA2825201032
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072169
ClinVar RCV Id: RCV004012199
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Met2582Ile
CA405671903
NM_000540.3:c.7746G>A
CA405671904
NM_000540.3:c.7746G>T
CA405671905
NM_000540.3:c.7746G>C