Canonical Allele Identifier: PA645456185
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329035
ClinVar RCV Id: RCV000265956 RCV000270216 RCV000308884 RCV000365875 RCV000868676 RCV003221924
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro1774Leu
CA066879
NM_000540.3:c.5321C>T