Canonical Allele Identifier: PA2825198308
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 548508
ClinVar RCV Id: RCV000662002 RCV000662003 RCV000662001 RCV000721581 RCV001241734
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu1714del
CA633066587
NM_000540.3:c.5140_5142del