Canonical Allele Identifier: PA915959635
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 645993
ClinVar RCV Id: RCV000800187
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp4879Glu
CA405688119
NM_000540.3:c.14637C>A
CA405688120
NM_000540.3:c.14637C>G