Canonical Allele Identifier: PA1139673028
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2911590
ClinVar RCV Id: RCV003757059
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala4350Ser
CA405673223
NM_000540.3:c.13048G>T