Canonical Allele Identifier: PA2573169842
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1479239
ClinVar RCV Id: RCV002009751
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro4384Leu
CA405673743
NM_000540.3:c.13151C>T