Canonical Allele Identifier: PA106160
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65961
ClinVar RCV Id: RCV000056208 RCV000119493 RCV001039994
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu4650Pro
CA024091
NM_000540.3:c.13949T>C