Canonical Allele Identifier: PA105340
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133196
ClinVar RCV Id: RCV000119700 RCV001050747 RCV001802869 RCV004017409
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2435Leu
CA024753
NM_000540.3:c.7304G>T