Canonical Allele Identifier: PA2825195693
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2890073
ClinVar RCV Id: RCV003756688
ClinVar Variation Id: 3075118
ClinVar RCV Id: RCV004015644
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser556Leu
CA062286
NM_000540.3:c.1667C>T
CA2739276738
NM_000540.3:c.1667_1668delinsTA