Canonical Allele Identifier: PA2741827885
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2889039
ClinVar RCV Id: RCV003756666
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Met2578Leu
CA082569
NM_001042723.2:c.7732A>C
CA405671836
NM_001042723.2:c.7732A>T