Canonical Allele Identifier: PA212035
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224407
ClinVar RCV Id: RCV000209974 RCV000541881 RCV001582718 RCV002485369
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr4972Ile
CA061806
NM_000540.3:c.14915C>T