Canonical Allele Identifier: PA915962692
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224390
ClinVar RCV Id: RCV000209968 RCV000678749 RCV000765449 RCV000800203 RCV001356636
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asn2634Lys
CA071016
NM_001042723.2:c.7902C>A
CA405674119
NM_001042723.2:c.7902C>G