Canonical Allele Identifier: PA915962462
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93282
ClinVar RCV Id: RCV000079159 RCV000723690 RCV001854396 RCV003997200
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asn2188Lys
CA024612
NM_001042723.2:c.6564C>G
CA405665559
NM_001042723.2:c.6564C>A