Canonical Allele Identifier: PA2825420773
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072383
ClinVar RCV Id: RCV004013405
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Val2558Leu
CA405671558
NM_001042723.2:c.7672G>C
CA405671559
NM_001042723.2:c.7672G>T