Canonical Allele Identifier: PA2825204822
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074371
ClinVar RCV Id: RCV004013905
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr4748Ala
CA405684586
NM_000540.3:c.14242A>G