Canonical Allele Identifier: PA2825422918
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590453
ClinVar RCV Id: RCV000721371 RCV001449982
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Gly4815Arg
CA405687229
NM_001042723.2:c.14443G>A
CA405687232
NM_001042723.2:c.14443G>C