Canonical Allele Identifier: PA1139673503
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 940673
ClinVar RCV Id: RCV001210308
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp4918Asn
CA405690809
NM_000540.3:c.14752G>A