Canonical Allele Identifier: PA2825420832
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3157345
ClinVar RCV Id: RCV004447188
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Met2608Leu
CA405672981
NM_001042723.2:c.7822A>C
CA405672985
NM_001042723.2:c.7822A>T