Canonical Allele Identifier: PA658681084
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478260
ClinVar RCV Id: RCV000549320 RCV000990199 RCV003133376
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2224His
CA308104313
NM_000540.3:c.6671G>A