Canonical Allele Identifier: PA106274
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12989
ClinVar RCV Id: RCV000013861 RCV000119694 RCV000415169 RCV001197410 RCV001851835 RCV002504782 RCV003996094 RCV004017243
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Met2423Lys
CA024732
NM_000540.3:c.7268T>A