Canonical Allele Identifier: PA2499233163
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1061001
ClinVar RCV Id: RCV001370507
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu4243Asp
CA405671023
NM_000540.3:c.12729G>C
CA405671024
NM_000540.3:c.12729G>T