Canonical Allele Identifier: PA645456325
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329079
ClinVar RCV Id: RCV000272700 RCV000292819 RCV000327865 RCV000387044 RCV002521223
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Lys2838Asn
CA072142
NM_000540.3:c.8514A>C
CA405678955
NM_000540.3:c.8514A>T