Canonical Allele Identifier: PA231839
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 66002
ClinVar RCV Id: RCV000056249 RCV000119485
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Tyr4631Asn
CA024074
NM_000540.3:c.13891T>A