Canonical Allele Identifier: PA231843
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65995
ClinVar RCV Id: RCV000056242 RCV000119488 RCV000536286
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr4637Ile
CA024080
NM_000540.3:c.13910C>T