Canonical Allele Identifier: PA2580147005
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2140220
ClinVar RCV Id: RCV003053002 RCV004009310
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu2610Phe
CA070357
NM_001042723.2:c.7828C>T