Canonical Allele Identifier: PA2573169911
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1393451
ClinVar RCV Id: RCV001927143 RCV004010791
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala4597Val
CA308114046
NM_000540.3:c.13790C>T